T65K (p.Thr65Lys) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
T65K (p.Thr65Lys) in MYBPC3 (Myosin-binding protein C, cardiac-type) 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 0.35 / 1. The record also includes population frequency data and structural context.
T65K (p.Thr65Lys) variant details
- p.Thr65Lys
- ExAC rs753300898
- TOPMed rs753300898
- gnomAD rs753300898
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.39
- ESM-1b 0.00
- AlphaMissense 0.28
- CADD 23.70
- PolyPhen-2 0.78
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available