R54Q (p.Arg54Gln) variant of RNF215 (RING finger protein 215)
R54Q (p.Arg54Gln) in RNF215 (RING finger protein 215) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
R54Q (p.Arg54Gln) variant details
- p.Arg54Gln
- ExAC rs758159316
- TOPMed rs758159316
- gnomAD rs758159316
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 23.40
- PolyPhen-2 0.84
- SIFT 0.29
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available