P40L (p.Pro40Leu) variant of DSC2 (Desmocollin-2)
P40L (p.Pro40Leu) in DSC2 (Desmocollin-2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
P40L (p.Pro40Leu) variant details
- p.Pro40Leu
- Ensembl rs1022171817
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- REVEL 0.52
- AlphaMissense 0.21
- MetaLR 0.33
- MetaSVM -0.35
- CADD 25.60
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available