G30S (p.Gly30Ser) variant of SRC (P12931)
G30S (p.Gly30Ser) in SRC (P12931) is a missense 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.
G30S (p.Gly30Ser) variant details
- p.Gly30Ser
- gnomAD 20-37384241-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.07
- MetaLR 0.19
- MetaSVM -1.01
- CADD 20.20
- PolyPhen-2 0.00
- SIFT 0.24
- Most common in the Latino/Admixed American population (allele frequency 2.5e-05)
- Structural context available
- SRC SH3 domain domainome 1.0: score -0.003
- Literature evidence available