E22K (p.Glu22Lys) variant of SRC (P12931)
E22K (p.Glu22Lys) in SRC (P12931) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E22K (p.Glu22Lys) variant details
- p.Glu22Lys
- rs1416764320
- TOPMed rs1416764320
- gnomAD rs1416764320
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.32
- CADD 21.30
- PolyPhen-2 0.02
- SIFT 0.84
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3.1e-05)
- Structural context available
- SRC SH3 domain domainome 1.0: score -0.629