V29L (p.Val29Leu) variant of DSG1 (Desmoglein-1)
V29L (p.Val29Leu) in DSG1 (Desmoglein-1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
V29L (p.Val29Leu) variant details
- p.Val29Leu
- ExAC rs759853035
- TOPMed rs759853035
- gnomAD rs759853035
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.20
- MetaLR 0.29
- MetaSVM -0.54
- CADD 29.60
- PolyPhen-2 0.56
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available