G7A (p.Gly7Ala) variant of MYO7A (Unconventional myosin-VIIa)
G7A (p.Gly7Ala) in MYO7A (Unconventional myosin-VIIa) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
G7A (p.Gly7Ala) variant details
- p.Gly7Ala
- gnomAD 11-77142710-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.867
- REVEL 0.92
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available