A57T (p.Ala57Thr) variant of RNF215 (RING finger protein 215)
A57T (p.Ala57Thr) in RNF215 (RING finger protein 215) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
A57T (p.Ala57Thr) variant details
- p.Ala57Thr
- TOPMed rs1336552162
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 23.50
- PolyPhen-2 0.81
- SIFT 0.15
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.2)
- Structural context available