K62T (p.Lys62Thr) variant of MYL2 (P10916)
K62T (p.Lys62Thr) in MYL2 (P10916) 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 0.46 / 1. The record also includes population frequency data and structural context.
K62T (p.Lys62Thr) variant details
- p.Lys62Thr
- rs1766715902
- ClinGen CA386698841
- ClinVar RCV002414883
- TOPMed rs1766715902
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- AlphaMissense 0.21
- MetaLR 0.38
- MetaSVM -0.47
- PolyPhen-2 0.90
- SIFT 0.56
- MutPred 0.47
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available