D31N (p.Asp31Asn) variant of DSG1 (Desmoglein-1)
D31N (p.Asp31Asn) in DSG1 (Desmoglein-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
D31N (p.Asp31Asn) variant details
- p.Asp31Asn
- gnomAD 18-31326880-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.23
- MetaLR 0.21
- MetaSVM -0.86
- CADD 24.80
- PolyPhen-2 0.60
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available