N36K (p.Asn36Lys) variant of DSG1 (Desmoglein-1)
N36K (p.Asn36Lys) in DSG1 (Desmoglein-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
N36K (p.Asn36Lys) variant details
- p.Asn36Lys
- gnomAD 18-31326897-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.12
- MetaLR 0.14
- MetaSVM -1.03
- CADD 22.70
- PolyPhen-2 0.18
- SIFT 0.07
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available