A79T (p.Ala79Thr) variant of DSG1 (Desmoglein-1)
A79T (p.Ala79Thr) 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 and structural context.
A79T (p.Ala79Thr) variant details
- p.Ala79Thr
- gnomAD rs1275307469
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.04
- MetaLR 0.12
- MetaSVM -1.00
- CADD 22.40
- PolyPhen-2 0.16
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available