H103Y (p.His103Tyr) variant of ABCC8 (Q09428)
H103Y (p.His103Tyr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
H103Y (p.His103Tyr) variant details
- p.His103Tyr
- rs751209734
- ClinGen CA5903910
- NCI-TCGA Cosmic COSV5684
- cosmic curated COSV56848
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- REVEL 0.66
- CADD 23.60
- PolyPhen-2 0.52
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)