K55I (p.Lys55Ile) variant of DSC2 (Desmocollin-2)
K55I (p.Lys55Ile) in DSC2 (Desmocollin-2) is a missense change. Clinical records from ClinVar, EBI, 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 0.40 / 1. The record also includes structural context.
K55I (p.Lys55Ile) variant details
- p.Lys55Ile
- rs2144847063
- ClinGen CA402114976
- ClinVar RCV001754889
- Ensembl rs2144847063
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- AlphaMissense 0.31
- MetaLR 0.14
- MetaSVM -0.96
- PolyPhen-2 0.92
- SIFT 0.01
- EVE 0.50
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available