F25S (p.Phe25Ser) variant of DSG1 (Desmoglein-1)
F25S (p.Phe25Ser) in DSG1 (Desmoglein-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
F25S (p.Phe25Ser) variant details
- p.Phe25Ser
- gnomAD 18-31326606-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.47
- MetaLR 0.36
- MetaSVM -0.40
- CADD 27.50
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Literature evidence available