A78T (p.Ala78Thr) variant of DSG1 (Desmoglein-1)
A78T (p.Ala78Thr) in DSG1 (Desmoglein-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
A78T (p.Ala78Thr) variant details
- p.Ala78Thr
- ExAC rs770122916
- gnomAD rs770122916
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.12
- MetaLR 0.18
- MetaSVM -0.81
- CADD 24.50
- PolyPhen-2 0.42
- SIFT 0.05
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available