V8A (p.Val8Ala) variant of DSG1 (Desmoglein-1)
V8A (p.Val8Ala) in DSG1 (Desmoglein-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
V8A (p.Val8Ala) variant details
- p.Val8Ala
- gnomAD 18-31318323-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.04
- MetaLR 0.07
- MetaSVM -1.03
- CADD 10.70
- PolyPhen-2 0.00
- SIFT 0.19
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available