L14V (p.Leu14Val) variant of DSC2 (Desmocollin-2)
L14V (p.Leu14Val) in DSC2 (Desmocollin-2) 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 and structural context.
L14V (p.Leu14Val) variant details
- p.Leu14Val
- gnomAD rs1387586684
- Missense
- Variant Prioritization Score for Impact Estimate 0.12
- REVEL 0.03
- CADD 15.60
- PolyPhen-2 0.01
- SIFT 0.08
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available