V2M (p.Val2Met) variant of MYO7A (Unconventional myosin-VIIa)
V2M (p.Val2Met) in MYO7A (Unconventional myosin-VIIa) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
V2M (p.Val2Met) variant details
- p.Val2Met
- gnomAD 11-77130638-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- REVEL 0.56
- CADD 24.20
- PolyPhen-2 0.95
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available