A71S (p.Ala71Ser) variant of DSG1 (Desmoglein-1)
A71S (p.Ala71Ser) in DSG1 (Desmoglein-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
A71S (p.Ala71Ser) variant details
- p.Ala71Ser
- gnomAD 18-31327000-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.30
- MetaLR 0.36
- MetaSVM -0.26
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Literature evidence available