V71M (p.Val71Met) variant of MYH6 (Myosin-6)
V71M (p.Val71Met) in MYH6 (Myosin-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
V71M (p.Val71Met) variant details
- p.Val71Met
- ExAC rs773127466
- gnomAD rs773127466
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.59
- CADD 21.90
- PolyPhen-2 0.95
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available