A14V (p.Ala14Val) variant of ITGA6 (Integrin alpha-6)
A14V (p.Ala14Val) in ITGA6 (Integrin alpha-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Epidermolysis bullosa, junctional 6, with pyloric atresia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
A14V (p.Ala14Val) variant details
- p.Ala14Val
- ExAC rs758278211
- gnomAD rs758278211
- Uncertain significance
- Epidermolysis bullosa, junctional 6, with pyloric atresia
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- CADD 19.00
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Epidermolysis bullosa, junctional 6, with pyloric atresia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available