Q6E (p.Gln6Glu) variant of MYO7A (Unconventional myosin-VIIa)
Q6E (p.Gln6Glu) in MYO7A (Unconventional myosin-VIIa) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
Q6E (p.Gln6Glu) variant details
- p.Gln6Glu
- gnomAD 11-77130650-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.27
- CADD 19.00
- PolyPhen-2 0.00
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available