R67K (p.Arg67Lys) variant of DSG1 (Desmoglein-1)
R67K (p.Arg67Lys) in DSG1 (Desmoglein-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
R67K (p.Arg67Lys) variant details
- p.Arg67Lys
- Ensembl rs2071689680
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.15
- MetaLR 0.17
- MetaSVM -0.95
- CADD 22.70
- PolyPhen-2 0.44
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available