S43A (p.Ser43Ala) variant of DSG1 (Desmoglein-1)
S43A (p.Ser43Ala) in DSG1 (Desmoglein-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
S43A (p.Ser43Ala) variant details
- p.Ser43Ala
- ExAC rs755989089
- gnomAD rs755989089
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.08
- MetaLR 0.11
- MetaSVM -1.05
- CADD 16.20
- PolyPhen-2 0.08
- SIFT 0.25
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available