H44Y (p.His44Tyr) variant of SLC2A2 (P11168)
H44Y (p.His44Tyr) 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 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
H44Y (p.His44Tyr) variant details
- p.His44Tyr
- rs760618624
- ClinGen CA2702753
- ClinVar RCV002663289
- ClinVar RCV005281212
- Uncertain significance
- Inborn genetic diseases; Fanconi-Bickel syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.118
- REVEL 0.15
- CADD 2.23
- PolyPhen-2 0.00
- SIFT 0.20
- ClinVar: Uncertain significance (Inborn genetic diseases; Fanconi-Bickel syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- 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)