F6L (p.Phe6Leu) variant of DSG1 (Desmoglein-1)
F6L (p.Phe6Leu) in DSG1 (Desmoglein-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
F6L (p.Phe6Leu) variant details
- p.Phe6Leu
- gnomAD 18-31318316-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.123
- REVEL 0.06
- MetaLR 0.10
- MetaSVM -1.04
- CADD 14.30
- PolyPhen-2 0.00
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available