P40S (p.Pro40Ser) variant of DSC2 (Desmocollin-2)
P40S (p.Pro40Ser) in DSC2 (Desmocollin-2) 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 0.54 / 1. The record also includes population frequency data and structural context.
P40S (p.Pro40Ser) variant details
- p.Pro40Ser
- cosmic curated COSV10456
- TOPMed rs1987671927
- gnomAD rs1987671927
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- REVEL 0.44
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available