H9L (p.His9Leu) variant of MYO7A (Unconventional myosin-VIIa)
H9L (p.His9Leu) in MYO7A (Unconventional myosin-VIIa) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
H9L (p.His9Leu) variant details
- p.His9Leu
- gnomAD rs1555051400
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.29
- CADD 20.30
- PolyPhen-2 0.00
- SIFT 0.10
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available