K7T (p.Lys7Thr) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
K7T (p.Lys7Thr) 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 0.27 / 1. The record also includes population frequency data and structural context.
K7T (p.Lys7Thr) variant details
- p.Lys7Thr
- rs1595851193
- ClinGen CA380342752
- ClinVar RCV005400748
- Ensembl rs1595851193
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.27
- CADD 23.20
- PolyPhen-2 0.21
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ACB population (allele frequency 0.038)
- Structural context available