I112M (p.Ile112Met) variant of RPA1 (P27694)
I112M (p.Ile112Met) 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 0.38 / 1. The record also includes population frequency data.
I112M (p.Ile112Met) variant details
- p.Ile112Met
- rs750892999
- ClinGen CA8275896
- ClinVar RCV004117798
- ExAC rs750892999
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- AlphaMissense 0.19
- MetaLR 0.23
- MetaSVM -0.70
- PolyPhen-2 0.98
- SIFT 0.00
- MutPred 0.64
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available