A50V (p.Ala50Val) variant of RNF215 (RING finger protein 215)
A50V (p.Ala50Val) in RNF215 (RING finger protein 215) is a missense change. Clinical records from ClinVar 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 0.28 / 1. The record also includes population frequency data and structural context.
A50V (p.Ala50Val) variant details
- p.Ala50Val
- rs981904282
- TOPMed rs981904282
- gnomAD rs981904282
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 7.68
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available