Q75R (p.Gln75Arg) variant of MYH7 (Myosin-7)
Q75R (p.Gln75Arg) in MYH7 (Myosin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
Q75R (p.Gln75Arg) variant details
- p.Gln75Arg
- Ensembl rs749687044
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.42
- CADD 23.60
- PolyPhen-2 0.09
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available