P40A (p.Pro40Ala) variant of DSC2 (Desmocollin-2)
P40A (p.Pro40Ala) 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.
P40A (p.Pro40Ala) variant details
- p.Pro40Ala
- TOPMed rs1987671927
- gnomAD rs1987671927
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.44
- CADD 24.00
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available