W21S (p.Trp21Ser) variant of IDH2 (P48735)
W21S (p.Trp21Ser) in IDH2 (P48735) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; D-2-hydroxyglutaric aciduria 2; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
W21S (p.Trp21Ser) variant details
- p.Trp21Ser
- rs776341694
- ClinGen CA7733291
- ClinVar RCV001817315
- ClinVar RCV003514529
- Uncertain significance
- not specified; D-2-hydroxyglutaric aciduria 2; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.20
- CADD 19.20
- PolyPhen-2 0.00
- SIFT 0.42
- ClinVar: Uncertain significance (not specified; D-2-hydroxyglutaric aciduria 2; Inborn genetic di)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00012)
- 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)