P38L (p.Pro38Leu) variant of SRC (P12931)
P38L (p.Pro38Leu) in SRC (P12931) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P38L (p.Pro38Leu) variant details
- p.Pro38Leu
- ExAC rs777533514
- gnomAD rs777533514
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.28
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- SRC SH3 domain domainome 1.0: score -0.945