G30A (p.Gly30Ala) variant of SRC (P12931)
G30A (p.Gly30Ala) 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.
G30A (p.Gly30Ala) variant details
- p.Gly30Ala
- gnomAD 20-37384237-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.251
- CADD 24.00
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- SRC SH3 domain domainome 1.0: score -0.003
- Literature evidence available