A27D (p.Ala27Asp) variant of SRC (P12931)
A27D (p.Ala27Asp) in SRC (P12931) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A27D (p.Ala27Asp) variant details
- p.Ala27Asp
- gnomAD 20-37384233-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.13
- MetaLR 0.18
- MetaSVM -0.99
- CADD 6.55
- PolyPhen-2 0.00
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- SRC SH3 domain domainome 1.0: score -1
- Literature evidence available