A2V (p.Ala2Val) variant of CHM (P24386)
A2V (p.Ala2Val) in CHM (P24386) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- rs1185313651
- ClinGen CA413788718
- ClinVar RCV001242934
- ClinVar RCV001829006
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.41
- MetaLR 0.81
- MetaSVM 0.79
- CADD 26.40
- PolyPhen-2 0.95
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 5.2e-05)
- Structural context available
- Cited in: Choroideremia. (PMID 20301511)