T52S (p.Thr52Ser) variant of RPA1 (P27694)
T52S (p.Thr52Ser) 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.
T52S (p.Thr52Ser) variant details
- p.Thr52Ser
- rs748543005
- ClinGen CA8275814
- ClinVar RCV004193681
- ExAC rs748543005
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- AlphaMissense 0.34
- MetaLR 0.08
- MetaSVM -1.05
- PolyPhen-2 0.02
- SIFT 0.42
- MutPred 0.57
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available