R41H (p.Arg41His) variant of RPA1 (P27694)
R41H (p.Arg41His) 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 0.57 / 1. The record also includes population frequency data.
R41H (p.Arg41His) variant details
- p.Arg41His
- rs758675207
- ExAC rs758675207
- TOPMed rs758675207
- gnomAD rs758675207
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- AlphaMissense 0.99
- MetaLR 0.52
- MetaSVM 0.12
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.73
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available