A52V (p.Ala52Val) variant of RNF215 (RING finger protein 215)
A52V (p.Ala52Val) 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 0.28 / 1. The record also includes population frequency data and structural context.
A52V (p.Ala52Val) variant details
- p.Ala52Val
- 1000Genomes rs1179368038
- TOPMed rs1179368038
- gnomAD rs1179368038
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 13.90
- PolyPhen-2 0.00
- SIFT 0.68
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available