L86P (p.Leu86Pro) variant of DSC2 (Desmocollin-2)
L86P (p.Leu86Pro) in DSC2 (Desmocollin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
L86P (p.Leu86Pro) variant details
- p.Leu86Pro
- ExAC rs763988877
- gnomAD rs763988877
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.38
- CADD 17.10
- PolyPhen-2 0.64
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available