V74M (p.Val74Met) variant of ABCC6 (O95255)
V74M (p.Val74Met) in ABCC6 (O95255) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
V74M (p.Val74Met) variant details
- p.Val74Met
- gnomAD rs1426447176
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.12
- CADD 29.10
- PolyPhen-2 0.54
- SIFT 0.01
- Most common in the Middle Eastern population (allele frequency 0.00025)
- Structural context available