H105Q (p.His105Gln) variant of ABCC8 (Q09428)
H105Q (p.His105Gln) 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 0.65 / 1. The record also includes population frequency data and structural context.
H105Q (p.His105Gln) variant details
- p.His105Gln
- Ensembl rs1848404808
- Uncertain significance
- Hereditary hyperinsulinism
- Missense
- Variant Prioritization Score for Impact Estimate 0.653
- REVEL 0.80
- CADD 19.80
- PolyPhen-2 0.84
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary hyperinsulinism)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available