A26V (p.Ala26Val) variant of MYO7A (Unconventional myosin-VIIa)
A26V (p.Ala26Val) in MYO7A (Unconventional myosin-VIIa) 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 0.79 / 1. The record also includes population frequency data and structural context.
A26V (p.Ala26Val) variant details
- p.Ala26Val
- rs369125667
- ClinGen CA6197021
- ClinVar RCV002632979
- ESP rs369125667
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- REVEL 0.80
- CADD 25.80
- PolyPhen-2 0.99
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic (in USH1B)
- UniProt: Pathogenic (in USH1B)
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available