V84F (p.Val84Phe) variant of ABCC8 (Q09428)
V84F (p.Val84Phe) 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 0.65 / 1. The record also includes population frequency data and structural context.
V84F (p.Val84Phe) variant details
- p.Val84Phe
- ExAC rs775776658
- TOPMed rs775776658
- gnomAD rs775776658
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.653
- REVEL 0.78
- CADD 24.80
- PolyPhen-2 0.94
- SIFT 0.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available