D31H (p.Asp31His) variant of DSG1 (Desmoglein-1)
D31H (p.Asp31His) 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 and structural context.
D31H (p.Asp31His) variant details
- p.Asp31His
- ExAC rs765346933
- gnomAD rs765346933
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.31
- MetaLR 0.33
- MetaSVM -0.53
- CADD 27.30
- PolyPhen-2 0.89
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available