Q27E (p.Gln27Glu) variant of MYH6 (Myosin-6)
Q27E (p.Gln27Glu) in MYH6 (Myosin-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
Q27E (p.Gln27Glu) variant details
- p.Gln27Glu
- TOPMed rs1162925455
- gnomAD rs1162925455
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- REVEL 0.68
- CADD 23.00
- PolyPhen-2 0.04
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available