A34P (p.Ala34Pro) variant of SRC (P12931)
A34P (p.Ala34Pro) in SRC (P12931) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A34P (p.Ala34Pro) variant details
- p.Ala34Pro
- 1000Genomes rs1288993928
- TOPMed rs1288993928
- gnomAD rs1288993928
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.139
- REVEL 0.15
- CADD 8.88
- PolyPhen-2 0.15
- SIFT 0.14
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.0063)
- Structural context available
- SRC SH3 domain domainome 1.0: score 0.0404