A31R (p.Ala31Arg) variant of SRC (P12931)
A31R (p.Ala31Arg) in SRC (P12931) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A31R (p.Ala31Arg) variant details
- p.Ala31Arg
- gnomAD 20-37384237-C-CG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.253
- CADD 24.40
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.4e-05)
- Structural context available
- SRC SH3 domain domainome 1.0: score -0.0393
- Literature evidence available