A105G (p.Ala105Gly) variant of RPA1 (P27694)
A105G (p.Ala105Gly) 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 0.33 / 1. The record also includes population frequency data.
A105G (p.Ala105Gly) variant details
- p.Ala105Gly
- rs775867881
- ClinGen CA8275890
- ClinVar RCV004231337
- ClinVar RCV005926878
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- AlphaMissense 0.10
- MetaLR 0.09
- MetaSVM -1.04
- PolyPhen-2 0.02
- SIFT 1.00
- MutPred 0.40
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available