Is KRAS p.Glu31= (c.93A>G) pathogenic?

KRAS p.Glu31= (c.93A>G) is classified Conflicting classifications of pathogenicity in KRAS (ClinVar, Conflicting submitters, 8 submitters; last evaluated 2026-01-19). Very rare (popmax 0.00934%, nfe); Associated with Cardiovascular phenotype.

What condition is associated with KRAS p.Glu31= (c.93A>G)?

KRAS p.Glu31= (c.93A>G) is associated with Cardiovascular phenotype, RASopathy (ClinVar).

How common is KRAS p.Glu31= (c.93A>G) in the general population?

KRAS p.Glu31= (c.93A>G) is very rare (popmax 0.00934%, nfe) (gnomAD).

KRAS p.Glu31=

c.93A>G · rs377354475 · VCV195234

Conflicting classifications of pathogenicity Conflicting submitters

Classification

Conflicting classifications of pathogenicity

ClinVar

Review

Conflicting submitters ★☆☆☆

ClinVar · 8 submitters

gnomAD v4.1

Rare

very rare (popmax 0.00934%, nfe)

Conditions

Cardiovascular phenotype

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 0.84	GERP 0.4, phastCons 1
Overall
CADD	8.613	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00934% European (non-Finnish) · 110/1,177,768 alleles

Filtering AF 0.00792% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.00737%

Overall 0.0072% 116/1,610,272 alleles · very rare

Ancestry group	Frequency	1 in
European (non-Finnish)grpmax	0.00934%	10,707
African / African-American	0.00401%	24,961
Remaining individualsnot grpmax-eligible	0.00321%	31,145
Admixed American	0.00167%	59,782

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: KRAS
Protein: p.Glu31=
Coding: c.93A>G
MANE Select: NM_004985 · reported on NM_033360
dbSNP: rs377354475
Type: single nucleotide variant
Location: chr12:25245292 (GRCh38)
Gene constraint: LOEUF 0.264 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 91.65 · 549 PDB
Residue 31: a β-strand

Full KRAS gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Cardiovascular phenotype — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: RASopathy

Similar variants

KRAS p.Glu31Ter Uncertain significance same residue
KRAS p.Asp153Val Pathogenic ★★★ same condition
KRAS p.Gln22Arg Pathogenic ★★★ same condition
KRAS p.Gly60Arg Pathogenic ★★★ same condition
KRAS p.Lys5Asn Pathogenic ★★★ same condition
KRAS p.Pro34Leu Pathogenic ★★★ same condition
KRAS p.Ser65Ile Likely pathogenic ★★★ same condition
KRAS p.Thr58Ile Pathogenic ★★★ same condition

Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →

Cite Sugi Variant

Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/kras-p-glu31 (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown