H9M (p.His9Met) variant of MYO7A (Unconventional myosin-VIIa)
H9M (p.His9Met) in MYO7A (Unconventional myosin-VIIa) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
H9M (p.His9Met) variant details
- p.His9Met
- gnomAD 11-77142713-AC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.622
- CADD 24.80
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available