T68K (p.Thr68Lys) variant of MYH6 (Myosin-6)
T68K (p.Thr68Lys) in MYH6 (Myosin-6) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
T68K (p.Thr68Lys) variant details
- p.Thr68Lys
- ExAC rs751285148
- TOPMed rs751285148
- gnomAD rs751285148
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- REVEL 0.72
- CADD 29.30
- PolyPhen-2 0.64
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available