M57I (p.Met57Ile) variant of RPA1 (P27694)
M57I (p.Met57Ile) 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 0.46 / 1. The record also includes population frequency data.
M57I (p.Met57Ile) variant details
- p.Met57Ile
- rs1912185922
- Ensembl rs1912185922
- ClinGen CA397579131
- ClinVar RCV004449706
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- AlphaMissense 0.99
- MetaLR 0.28
- MetaSVM -0.59
- PolyPhen-2 0.86
- SIFT 0.01
- MutPred 0.90
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available