L16V (p.Leu16Val) variant of DSG1 (Desmoglein-1)
L16V (p.Leu16Val) in DSG1 (Desmoglein-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
L16V (p.Leu16Val) variant details
- p.Leu16Val
- ExAC rs755031242
- gnomAD rs755031242
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.08
- MetaLR 0.08
- MetaSVM -0.96
- CADD 19.90
- PolyPhen-2 0.01
- SIFT 0.21
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available