V58M (p.Val58Met) variant of ABCC8 (Q09428)
V58M (p.Val58Met) in ABCC8 (Q09428) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
V58M (p.Val58Met) variant details
- p.Val58Met
- gnomAD rs1285524167
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- REVEL 0.70
- CADD 25.80
- PolyPhen-2 0.99
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available