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 0.54 / 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 0.542
- REVEL 0.48
- ESM-1b 1.00
- AlphaMissense 0.12
- MetaLR 0.44
- MetaSVM -0.24
- CADD 26.60
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available