L4D (p.Leu4Asp) variant of MYO7A (Unconventional myosin-VIIa)
L4D (p.Leu4Asp) 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.
L4D (p.Leu4Asp) variant details
- p.Leu4Asp
- rs1950740691
- gnomAD 11-77130638-G-GTG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.805
- CADD 31.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available