N68K (p.Asn68Lys) variant of DSG1 (Desmoglein-1)
N68K (p.Asn68Lys) in DSG1 (Desmoglein-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
N68K (p.Asn68Lys) variant details
- p.Asn68Lys
- TOPMed rs2071689710
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.25
- MetaLR 0.21
- MetaSVM -0.83
- CADD 20.40
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available