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RRAS p.Phe169=

c.507T>C · rs762283528 · VCV2449550

Likely benign Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00225%, eas)

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
ConservationphyloP -3.4GERP -3.4
Overall
CADD2.086PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes
Grpmax group 0.00225% East Asian · 1/44,424 alleles
Overall 6.25e-05% 1/1,600,900 alleles · very rare exomes 1/1,448,914 · genomes 0/151,986 · joint denominator

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
RRAS
Protein
p.Phe169=
Coding
c.507T>C
MANE Select
NM_006270
dbSNP
rs762283528
Type
single nucleotide variant
Location
chr19:49635799 (GRCh38)
Gene constraint
LOEUF 1.175 · pLI <0.01 (gnomAD)
Structure
AlphaFold pLDDT 86.79 · 2 PDB
Residue 169
a β-strand
Full RRAS gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

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/rras-p-phe169 (accessed [today's date]).

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