G7W (p.Gly7Trp) variant of MYO7A (Unconventional myosin-VIIa)
G7W (p.Gly7Trp) in MYO7A (Unconventional myosin-VIIa) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
G7W (p.Gly7Trp) variant details
- p.Gly7Trp
- gnomAD 11-77142709-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.894
- REVEL 0.94
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available