H36Y (p.His36Tyr) variant of ABCC8 (Q09428)
H36Y (p.His36Tyr) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Hyperinsulinemic hypoglycemia, familial, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
H36Y (p.His36Tyr) variant details
- p.His36Tyr
- rs1565001297
- ClinGen CA379789975
- ClinVar RCV003322282
- ClinVar RCV005240746
- Uncertain significance
- not specified; Hyperinsulinemic hypoglycemia, familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- REVEL 0.74
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (not specified; Hyperinsulinemic hypoglycemia, familial, 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)