H105Y (p.His105Tyr) variant of ABCC8 (Q09428)
H105Y (p.His105Tyr) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Diabetes mellitus, transient neonatal, 2; Diabetes mellitus, perma. 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.
H105Y (p.His105Tyr) variant details
- p.His105Tyr
- rs766068851
- ClinGen CA5903909
- ClinVar RCV001817803
- ClinVar RCV005040401
- Conflicting interpretations
- not provided; Diabetes mellitus, transient neonatal, 2; Diabetes mellitus, perma
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- REVEL 0.78
- CADD 25.60
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Diabetes mellitus, transient neonatal, 2; Diabetes)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Permanent Neonatal Diabetes Mellitus. (PMID 20301620)
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)