K67T (p.Lys67Thr) variant of MYH7 (Myosin-7)
K67T (p.Lys67Thr) in MYH7 (Myosin-7) 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 0.53 / 1. The record also includes population frequency data and structural context.
K67T (p.Lys67Thr) variant details
- p.Lys67Thr
- rs2138686446
- ClinGen CA389053579
- ClinVar RCV001963828
- ClinVar RCV003226514
- Uncertain significance
- Hypertrophic cardiomyopathy; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.48
- CADD 23.60
- PolyPhen-2 0.01
- SIFT 0.12
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available