G90R (p.Gly90Arg) variant of RPA1 (P27694)
G90R (p.Gly90Arg) in RPA1 (P27694) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data.
G90R (p.Gly90Arg) variant details
- p.Gly90Arg
- rs1411457047
- ClinGen CA397580034
- ClinVar RCV004224483
- TOPMed rs1411457047
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- AlphaMissense 0.83
- MetaLR 0.35
- MetaSVM -0.42
- PolyPhen-2 1.00
- SIFT 0.04
- MutPred 0.59
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available