SRC p.Glu381=
c.1143G>A · rs756352185 · VCV742883
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0701%, amr)
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 1.1 | GERP -0.36, phastCons 1 |
| Overall | ||
| CADD | 6.22 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0701%
Admixed American · 42/59,934 alleles
Filtering AF
0.0533%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0474%
Overall
0.00266%
43/1,613,820 alleles · ultra-rare
exomes 40/1,461,636 · genomes 3/152,184 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.0701% | 1,427 |
| African / African-American | 0.00134% | 74,902 |
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
- SRC
- Protein
- p.Glu381=
- Coding
- c.1143G>A
- MANE Select
- NM_198291
- dbSNP
- rs756352185
- Type
- single nucleotide variant
- Location
- chr20:37402461 (GRCh38)
- Gene constraint
- LOEUF 0.383 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 84.59 · 79 PDB
- Residue 381
- the protein kinase domain; an α-helix
Similar variants
- SRC p.Glu527Lys Pathogenic/Likely pathogenic ★★ same type
- SRC p.Glu492Lys Uncertain significance ★★ ⚠ same type
- SRC c.1117-180C>T Benign ★★ same type
- SRC c.1117-9C>T Likely benign ★★ same type
- SRC c.1271-55= Benign ★★ same type
- SRC c.449+9C>T Benign/Likely benign ★★ same type
- SRC c.553+8C>T Benign/Likely benign ★★ same type
- SRC c.554-5C>T Benign ★★ same type
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/src-p-glu381 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown