A4V (p.Ala4Val) variant of RNF215 (RING finger protein 215)
A4V (p.Ala4Val) in RNF215 (RING finger protein 215) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
A4V (p.Ala4Val) variant details
- p.Ala4Val
- Ensembl rs1933618103
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.27
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the HGDP:ADYGEI population (allele frequency 0.088)
- Structural context available