Q53E (p.Gln53Glu) variant of CA2 (Carbonic anhydrase 2)
Q53E (p.Gln53Glu) in CA2 (Carbonic anhydrase 2) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
Q53E (p.Gln53Glu) variant details
- p.Gln53Glu
- rs1811613004
- ClinGen CA371424694
- ClinVar RCV003733215
- ClinVar RCV004374123
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- REVEL 0.09
- MetaLR 0.13
- MetaSVM -1.00
- CADD 8.37
- SIFT 0.13
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- 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)