R16C (p.Arg16Cys) variant of SRC (P12931)
R16C (p.Arg16Cys) in SRC (P12931) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R16C (p.Arg16Cys) variant details
- p.Arg16Cys
- Ensembl rs2147049327
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.29
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.08
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.2e-05)
- Structural context available
- SRC SH3 domain domainome 1.0: score -0.466