M108V (p.Met108Val) variant of ABCC8 (Q09428)
M108V (p.Met108Val) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hereditary hyperinsulinism. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
M108V (p.Met108Val) variant details
- p.Met108Val
- ExAC rs772737291
- gnomAD rs772737291
- Uncertain significance
- Hereditary hyperinsulinism
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.51
- CADD 18.40
- PolyPhen-2 0.04
- SIFT 0.35
- ClinVar: Uncertain significance (Hereditary hyperinsulinism)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available