Q53E (p.Gln53Glu) variant of ITGA6 (Integrin alpha-6)
Q53E (p.Gln53Glu) in ITGA6 (Integrin alpha-6) 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 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
Q53E (p.Gln53Glu) variant details
- p.Gln53Glu
- rs374272135
- ClinGen CA1967722
- cosmic curated COSV99056
- ClinVar RCV003253246
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.71
- CADD 23.70
- PolyPhen-2 0.24
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- 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)