V69L (p.Val69Leu) variant of MYH7 (Myosin-7)
V69L (p.Val69Leu) in MYH7 (Myosin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
V69L (p.Val69Leu) variant details
- p.Val69Leu
- gnomAD rs1893020075
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.24
- CADD 13.70
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available