P8L (p.Pro8Leu) variant of SRC (P12931)
P8L (p.Pro8Leu) in SRC (P12931) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P8L (p.Pro8Leu) variant details
- p.Pro8Leu
- gnomAD 20-37384176-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.35
- MetaLR 0.29
- MetaSVM -0.62
- CADD 23.10
- PolyPhen-2 0.24
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- SRC SH3 domain domainome 1.0: score -0.496
- Literature evidence available