Q75R (p.Gln75Arg) variant of MYH6 (Myosin-6)
Q75R (p.Gln75Arg) in MYH6 (Myosin-6) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy 14. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
Q75R (p.Gln75Arg) variant details
- p.Gln75Arg
- ExAC rs761815039
- gnomAD rs761815039
- Uncertain significance
- Hypertrophic cardiomyopathy 14
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.40
- CADD 23.50
- PolyPhen-2 0.15
- SIFT 0.04
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 14)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available