A79S (p.Ala79Ser) variant of DSG1 (Desmoglein-1)
A79S (p.Ala79Ser) in DSG1 (Desmoglein-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
A79S (p.Ala79Ser) variant details
- p.Ala79Ser
- gnomAD 18-31328207-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.01
- MetaLR 0.10
- MetaSVM -1.06
- CADD 21.90
- PolyPhen-2 0.16
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Literature evidence available