G97R (p.Gly97Arg) variant of ABCC8 (Q09428)
G97R (p.Gly97Arg) in ABCC8 (Q09428) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
G97R (p.Gly97Arg) variant details
- p.Gly97Arg
- rs1405170371
- ClinGen CA379787027
- NCI-TCGA Cosmic COSV5685
- cosmic curated COSV56854
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.577
- REVEL 0.55
- CADD 24.40
- PolyPhen-2 0.01
- SIFT 0.26
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)