G30C (p.Gly30Cys) variant of SRC (P12931)
G30C (p.Gly30Cys) in SRC (P12931) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G30C (p.Gly30Cys) variant details
- p.Gly30Cys
- gnomAD 20-37384241-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.21
- MetaLR 0.27
- MetaSVM -0.81
- CADD 24.70
- PolyPhen-2 0.57
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.4e-05)
- Structural context available
- SRC SH3 domain domainome 1.0: score -0.003
- Literature evidence available