V8G (p.Val8Gly) variant of DSG1 (Desmoglein-1)
V8G (p.Val8Gly) in DSG1 (Desmoglein-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
V8G (p.Val8Gly) variant details
- p.Val8Gly
- gnomAD 18-31318323-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.07
- MetaLR 0.10
- MetaSVM -1.00
- CADD 16.30
- PolyPhen-2 0.00
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available