G34A (p.Gly34Ala) variant of MYO7A (Unconventional myosin-VIIa)
G34A (p.Gly34Ala) in MYO7A (Unconventional myosin-VIIa) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
G34A (p.Gly34Ala) variant details
- p.Gly34Ala
- rs782312060
- gnomAD 11-77142788-CTG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.809
- CADD 31.00
- Population evidence available
- Structural context available
- Literature evidence available