A42T (p.Ala42Thr) variant of RNF215 (RING finger protein 215)
A42T (p.Ala42Thr) in RNF215 (RING finger protein 215) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
A42T (p.Ala42Thr) variant details
- p.Ala42Thr
- Ensembl rs1933614888
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.06
- ESM-1b 0.23
- AlphaMissense 0.22
- CADD 22.80
- PolyPhen-2 0.96
- SIFT 0.08
- Most common in the HGDP:XIBO population (allele frequency 0.056)
- Structural context available