V84L (p.Val84Leu) variant of ABCC8 (Q09428)
V84L (p.Val84Leu) in ABCC8 (Q09428) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
V84L (p.Val84Leu) variant details
- p.Val84Leu
- ExAC rs775776658
- TOPMed rs775776658
- gnomAD rs775776658
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- REVEL 0.64
- CADD 20.70
- PolyPhen-2 0.33
- SIFT 0.16
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available