D63V (p.Asp63Val) variant of RNF215 (RING finger protein 215)
D63V (p.Asp63Val) in RNF215 (RING finger protein 215) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
D63V (p.Asp63Val) variant details
- p.Asp63Val
- TOPMed rs1244658133
- gnomAD rs1244658133
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.33
- CADD 26.10
- PolyPhen-2 0.76
- SIFT 0.00
- Most common in the HGDP:PIMA population (allele frequency 0.091)
- Structural context available