A43V (p.Ala43Val) variant of RNF215 (RING finger protein 215)
A43V (p.Ala43Val) in RNF215 (RING finger protein 215) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
A43V (p.Ala43Val) variant details
- p.Ala43Val
- rs1933614802
- ClinGen CA411202930
- ClinVar RCV004446632
- Ensembl rs1933614802
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.06
- ESM-1b 0.06
- AlphaMissense 0.30
- CADD 24.00
- PolyPhen-2 0.91
- SIFT 0.12
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available