H9D (p.His9Asp) variant of MYO7A (Unconventional myosin-VIIa)
H9D (p.His9Asp) in MYO7A (Unconventional myosin-VIIa) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
H9D (p.His9Asp) variant details
- p.His9Asp
- gnomAD 11-77142715-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.44
- CADD 21.90
- PolyPhen-2 0.02
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available