A5V (p.Ala5Val) variant of RNF215 (RING finger protein 215)
A5V (p.Ala5Val) in RNF215 (RING finger protein 215) is a missense change. 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.
A5V (p.Ala5Val) variant details
- p.Ala5Val
- gnomAD rs1933618018
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.25
- CADD 16.70
- PolyPhen-2 0.00
- SIFT 0.65
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available