H11Y (p.His11Tyr) variant of ABCC8 (Q09428)
H11Y (p.His11Tyr) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
H11Y (p.His11Tyr) variant details
- p.His11Tyr
- ExAC rs751082043
- TOPMed rs751082043
- gnomAD rs751082043
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.23
- CADD 22.80
- PolyPhen-2 0.03
- SIFT 0.15
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 7.1e-05)
- Structural context available