K5R (p.Lys5Arg) variant of SRC (P12931)
K5R (p.Lys5Arg) in SRC (P12931) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, experimental measurements, and structural context.
K5R (p.Lys5Arg) variant details
- p.Lys5Arg
- TOPMed rs2070408441
- gnomAD rs2070408441
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.32
- CADD 31.00
- PolyPhen-2 0.95
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- SRC SH3 domain domainome 1.0: score -0.985