K91E (p.Lys91Glu) variant of DSC2 (Desmocollin-2)
K91E (p.Lys91Glu) in DSC2 (Desmocollin-2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
K91E (p.Lys91Glu) variant details
- p.Lys91Glu
- ExAC rs760833378
- gnomAD rs760833378
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.141
- REVEL 0.02
- CADD 17.30
- PolyPhen-2 0.10
- SIFT 0.12
- ClinVar: Uncertain significance (Cardiomyopathy)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available