F25V (p.Phe25Val) variant of DSG1 (Desmoglein-1)
F25V (p.Phe25Val) in DSG1 (Desmoglein-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
F25V (p.Phe25Val) variant details
- p.Phe25Val
- gnomAD 18-31326605-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.29
- MetaLR 0.29
- MetaSVM -0.55
- CADD 25.60
- PolyPhen-2 0.71
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available