W444R (p.Trp444Arg) variant of SLC2A2 (P11168)
W444R (p.Trp444Arg) in SLC2A2 (P11168) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Fanconi-Bickel syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
W444R (p.Trp444Arg) variant details
- p.Trp444Arg
- gnomAD rs1715185497
- Likely pathogenic
- Fanconi-Bickel syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- REVEL 0.80
- CADD 27.90
- ClinVar: Likely pathogenic (Fanconi-Bickel syndrome)
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available