K67Q (p.Lys67Gln) variant of MYH6 (Myosin-6)
K67Q (p.Lys67Gln) in MYH6 (Myosin-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
K67Q (p.Lys67Gln) variant details
- p.Lys67Gln
- gnomAD rs1250343009
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.32
- CADD 20.50
- PolyPhen-2 0.04
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available