Y179C (p.Tyr179Cys) variant of ABCC8 (Q09428)
Y179C (p.Tyr179Cys) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Familial hyperinsulinism; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
Y179C (p.Tyr179Cys) variant details
- p.Tyr179Cys
- rs919281813
- ClinGen CA218452824
- ClinVar RCV000667913
- ClinVar RCV002530729
- Pathogenic
- Familial hyperinsulinism; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.817
- REVEL 0.93
- CADD 30.00
- PolyPhen-2 0.77
- SIFT 0.01
- ClinVar: Pathogenic (Familial hyperinsulinism; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)