A50D (p.Ala50Asp) variant of RNF215 (RING finger protein 215)
A50D (p.Ala50Asp) 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, published literature, and structural context.
A50D (p.Ala50Asp) variant details
- p.Ala50Asp
- gnomAD 22-30374646-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 7.20
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available