V45D (p.Val45Asp) variant of SLC2A2 (P11168)
V45D (p.Val45Asp) in SLC2A2 (P11168) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Fanconi-Bickel syndrome; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
V45D (p.Val45Asp) variant details
- p.Val45Asp
- rs149108283
- ClinGen CA2702751
- ClinVar RCV003002553
- ClinVar RCV003002554
- Uncertain significance
- Fanconi-Bickel syndrome; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- REVEL 0.56
- CADD 22.70
- PolyPhen-2 0.69
- SIFT 0.01
- ClinVar: Uncertain significance (Fanconi-Bickel syndrome; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.7e-05)
- 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)