N64T (p.Asn64Thr) variant of DSG1 (Desmoglein-1)
N64T (p.Asn64Thr) in DSG1 (Desmoglein-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
N64T (p.Asn64Thr) variant details
- p.Asn64Thr
- gnomAD 18-31326980-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.40
- MetaLR 0.32
- MetaSVM -0.39
- CADD 26.30
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available