R54W (p.Arg54Trp) variant of RNF215 (RING finger protein 215)
R54W (p.Arg54Trp) 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.
R54W (p.Arg54Trp) variant details
- p.Arg54Trp
- gnomAD rs905782611
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.32
- CADD 26.90
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Structural context available