A34S (p.Ala34Ser) variant of SRC (P12931)
A34S (p.Ala34Ser) in SRC (P12931) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A34S (p.Ala34Ser) variant details
- p.Ala34Ser
- 1000Genomes rs1288993928
- TOPMed rs1288993928
- gnomAD rs1288993928
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0964
- REVEL 0.10
- CADD 2.00
- PolyPhen-2 0.04
- SIFT 0.71
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available
- SRC SH3 domain domainome 1.0: score 0.0404