KRAS p.Glu76=
c.228G>A · rs727503107 · VCV163762
Conflicting classifications of pathogenicity
Conflicting submitters
Classification
Conflicting classifications of pathogenicity
ClinVar
Review
Conflicting submitters ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
RASopathy
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal. | ||
| Splicing | ||
| SpliceAI | Δ0.20 | donor loss, 50 bp away · masked 0 · deltas |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 7.7 | GERP 1.1, phastCons 1 |
| Overall | ||
| CADD | 13.08 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- KRAS
- Protein
- p.Glu76=
- Coding
- c.228G>A
- MANE Select
- NM_004985
- dbSNP
- rs727503107
- Type
- single nucleotide variant
- Location
- chr12:25227296 (GRCh38)
- Gene constraint
- LOEUF 0.264 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 91.65 · 549 PDB
- Residue 76
- a β-strand
Similar variants
- 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
- KRAS p.Val14Ile 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-glu76 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown