A42G (p.Ala42Gly) variant of RNF215 (RING finger protein 215)
A42G (p.Ala42Gly) 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.
A42G (p.Ala42Gly) variant details
- p.Ala42Gly
- TOPMed rs1933614851
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 23.10
- PolyPhen-2 0.96
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available