P40L (p.Pro40Leu) variant of RPA1 (P27694)
P40L (p.Pro40Leu) in RPA1 (P27694) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data.
P40L (p.Pro40Leu) variant details
- p.Pro40Leu
- rs757098924
- NCI-TCGA Cosmic COSV5461
- ExAC rs757098924
- TOPMed rs757098924
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- AlphaMissense 0.27
- MetaLR 0.11
- MetaSVM -0.99
- PolyPhen-2 0.97
- SIFT 0.03
- MutPred 0.45
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available