I42V (p.Ile42Val) variant of ABCC8 (Q09428)
I42V (p.Ile42Val) in ABCC8 (Q09428) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
I42V (p.Ile42Val) variant details
- p.Ile42Val
- TOPMed rs1848798012
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- REVEL 0.64
- CADD 22.80
- PolyPhen-2 0.69
- SIFT 0.24
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available