S43L (p.Ser43Leu) variant of DSG1 (Desmoglein-1)
S43L (p.Ser43Leu) in DSG1 (Desmoglein-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
S43L (p.Ser43Leu) variant details
- p.Ser43Leu
- ExAC rs766242288
- gnomAD rs766242288
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.22
- MetaLR 0.25
- MetaSVM -0.61
- CADD 25.30
- PolyPhen-2 0.52
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available