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 0.50 / 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 0.496
- REVEL 0.42
- ESM-1b 1.00
- AlphaMissense 0.17
- MetaLR 0.53
- MetaSVM 0.10
- CADD 24.10
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available