G16D (p.Gly16Asp) variant of IDH2 (P48735)
G16D (p.Gly16Asp) in IDH2 (P48735) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases; D-2-hydroxyglutaric aciduria 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
G16D (p.Gly16Asp) variant details
- p.Gly16Asp
- rs775225193
- ClinGen CA7733294
- ClinVar RCV002511804
- ClinVar RCV003164758
- Uncertain significance
- not provided; Inborn genetic diseases; D-2-hydroxyglutaric aciduria 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.17
- CADD 14.70
- PolyPhen-2 0.04
- SIFT 0.64
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases; D-2-hydroxyglutaric acidu)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00051)
- 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)