L30P (p.Leu30Pro) variant of MYO7A (Unconventional myosin-VIIa)
L30P (p.Leu30Pro) in MYO7A (Unconventional myosin-VIIa) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
L30P (p.Leu30Pro) variant details
- p.Leu30Pro
- gnomAD 11-77142778-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.78
- CADD 27.60
- Population evidence available
- Structural context available
- Literature evidence available