S65L (p.Ser65Leu) variant of DSG1 (Desmoglein-1)
S65L (p.Ser65Leu) 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 and structural context.
S65L (p.Ser65Leu) variant details
- p.Ser65Leu
- ExAC rs747573688
- gnomAD rs747573688
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.30
- MetaLR 0.29
- MetaSVM -0.52
- CADD 26.50
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available