Q21H (p.Gln21His) variant of ANGPTL3 (Angiopoietin-related protein 3)
Q21H (p.Gln21His) in ANGPTL3 (Angiopoietin-related protein 3) 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 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
Q21H (p.Gln21His) variant details
- p.Gln21His
- rs752195217
- ExAC rs752195217
- gnomAD rs752195217
- ClinGen CA886500
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.06
- CADD 17.50
- PolyPhen-2 0.00
- SIFT 0.04
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00035)
- 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)