K20N (p.Lys20Asn) variant of CAV3 (Caveolin-3)
K20N (p.Lys20Asn) in CAV3 (Caveolin-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes structural context.
K20N (p.Lys20Asn) variant details
- p.Lys20Asn
- rs972788554
- ClinGen CA351661399
- ClinVar RCV002360170
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- ESM-1b 0.00
- AlphaMissense 0.79
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available