G17A (p.Gly17Ala) variant of RPA1 (P27694)
G17A (p.Gly17Ala) 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 0.34 / 1. The record also includes population frequency data.
G17A (p.Gly17Ala) variant details
- p.Gly17Ala
- rs1912108371
- ClinGen CA397577140
- ClinVar RCV004449708
- TOPMed rs1912108371
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- AlphaMissense 0.14
- MetaLR 0.11
- MetaSVM -0.93
- PolyPhen-2 0.32
- SIFT 0.73
- MutPred 0.60
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available