V33M (p.Val33Met) variant of ITGA6 (Integrin alpha-6)
V33M (p.Val33Met) 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 Inborn genetic diseases; Epidermolysis bullosa, junctional 6, with pyloric atres. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
V33M (p.Val33Met) variant details
- p.Val33Met
- gnomAD rs965204894
- Uncertain significance
- Inborn genetic diseases; Epidermolysis bullosa, junctional 6, with pyloric atres
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- CADD 29.20
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases; Epidermolysis bullosa, junctional 6, wi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available