K99T (p.Lys99Thr) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
K99T (p.Lys99Thr) 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 Hypertrophic cardiomyopathy; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
K99T (p.Lys99Thr) variant details
- p.Lys99Thr
- rs1555123639
- ClinGen CA380341219
- ClinVar RCV000614279
- ClinVar RCV001046923
- Uncertain significance
- Hypertrophic cardiomyopathy; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.151
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.24
- CADD 16.20
- PolyPhen-2 0.03
- SIFT 0.11
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available