A78V (p.Ala78Val) variant of DSG1 (Desmoglein-1)
A78V (p.Ala78Val) in DSG1 (Desmoglein-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
A78V (p.Ala78Val) variant details
- p.Ala78Val
- gnomAD 18-31328205-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.22
- MetaLR 0.22
- MetaSVM -0.71
- CADD 25.40
- PolyPhen-2 0.58
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available