T7N (p.Thr7Asn) variant of SLC2A2 (P11168)
T7N (p.Thr7Asn) in SLC2A2 (P11168) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Fanconi-Bickel syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
T7N (p.Thr7Asn) variant details
- p.Thr7Asn
- rs369700669
- ClinGen CA87701733
- ClinVar RCV002967441
- ClinVar RCV003170757
- Uncertain significance
- Inborn genetic diseases; Fanconi-Bickel syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- REVEL 0.57
- CADD 23.20
- PolyPhen-2 0.51
- SIFT 0.03
- ClinVar: Uncertain significance (Inborn genetic diseases; Fanconi-Bickel syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00019)
- 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)