A127S (p.Ala127Ser) variant of SLC2A2 (P11168)
A127S (p.Ala127Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
A127S (p.Ala127Ser) variant details
- p.Ala127Ser
- rs1576833940
- ClinGen CA355491775
- ClinVar RCV000810094
- gnomAD rs1576833940
- Uncertain significance
- Fanconi-Bickel syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.19
- CADD 16.50
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Uncertain significance (Fanconi-Bickel syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available