Q35K (p.Gln35Lys) variant of MYO7A (Unconventional myosin-VIIa)
Q35K (p.Gln35Lys) in MYO7A (Unconventional myosin-VIIa) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
Q35K (p.Gln35Lys) variant details
- p.Gln35Lys
- gnomAD 11-77142793-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- REVEL 0.50
- CADD 18.50
- PolyPhen-2 0.19
- SIFT 0.64
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available