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 0.39 / 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 0.392
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.17
- MetaLR 0.37
- MetaSVM -0.62
- CADD 22.40
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available