A50T (p.Ala50Thr) variant of RNF215 (RING finger protein 215)
A50T (p.Ala50Thr) in RNF215 (RING finger protein 215) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
A50T (p.Ala50Thr) variant details
- p.Ala50Thr
- rs1414452597
- gnomAD 22-30374647-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 4.88
- SIFT 0.00
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- Structural context available
- Literature evidence available