F13S (p.Phe13Ser) variant of DSG1 (Desmoglein-1)
F13S (p.Phe13Ser) in DSG1 (Desmoglein-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
F13S (p.Phe13Ser) variant details
- p.Phe13Ser
- gnomAD rs2071633017
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.12
- MetaLR 0.12
- MetaSVM -1.06
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available