F13L (p.Phe13Leu) variant of DSG1 (Desmoglein-1)
F13L (p.Phe13Leu) in DSG1 (Desmoglein-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
F13L (p.Phe13Leu) variant details
- p.Phe13Leu
- gnomAD 18-31318339-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.146
- REVEL 0.03
- MetaLR 0.06
- MetaSVM -1.00
- CADD 11.50
- PolyPhen-2 0.00
- SIFT 0.64
- Population evidence available
- Structural context available
- Literature evidence available