SRC p.Ala141=
c.423G>A · rs1440380781 · VCV3067299
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00659%, sas)
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 -8.4 | GERP -4.2 |
| Overall | ||
| CADD | 0.876 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00659%
South Asian · 6/91,080 alleles
Filtering AF
0.00286%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00195%
Overall
0.0026%
42/1,613,926 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.00659% | 15,180 |
| East Asian | 0.00445% | 22,452 |
| European (non-Finnish) | 0.0028% | 35,758 |
| Remaining individualsnot grpmax-eligible | 0.0016% | 62,486 |
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.Ala141=
- Coding
- c.423G>A
- MANE Select
- NM_198291
- dbSNP
- rs1440380781
- Type
- single nucleotide variant
- Location
- chr20:37393967 (GRCh38)
- Gene constraint
- LOEUF 0.383 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 84.59 · 79 PDB
- Residue 141
- the sh3 domain; a β-strand
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-ala141 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown