Q5K (p.Gln5Lys) variant of MYO7A (Unconventional myosin-VIIa)
Q5K (p.Gln5Lys) in MYO7A (Unconventional myosin-VIIa) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
Q5K (p.Gln5Lys) variant details
- p.Gln5Lys
- gnomAD 11-77130647-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.33
- CADD 22.70
- PolyPhen-2 0.34
- SIFT 0.37
- Population evidence available
- Structural context available
- Literature evidence available