A49V (p.Ala49Val) variant of RNF215 (RING finger protein 215)
A49V (p.Ala49Val) 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 0.34 / 1. The record also includes population frequency data and structural context.
A49V (p.Ala49Val) variant details
- p.Ala49Val
- rs1417565727
- ClinGen CA411202851
- ClinVar RCV004282043
- TOPMed rs1417565727
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 7.13
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:YRI population (allele frequency 0.13)
- Structural context available