L12Q (p.Leu12Gln) variant of DSG1 (Desmoglein-1)
L12Q (p.Leu12Gln) in DSG1 (Desmoglein-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
L12Q (p.Leu12Gln) variant details
- p.Leu12Gln
- gnomAD rs1489241705
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.37
- MetaLR 0.33
- MetaSVM -0.34
- CADD 26.50
- PolyPhen-2 0.78
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available