P76A (p.Pro76Ala) variant of SLC2A2 (P11168)
P76A (p.Pro76Ala) 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 0.13 / 1. The record also includes population frequency data and structural context.
P76A (p.Pro76Ala) variant details
- p.Pro76Ala
- rs1274084408
- ClinGen CA355493282
- ClinVar RCV002659345
- gnomAD rs1274084408
- Uncertain significance
- Fanconi-Bickel syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.132
- REVEL 0.19
- CADD 0.20
- PolyPhen-2 0.01
- SIFT 0.27
- ClinVar: Uncertain significance (Fanconi-Bickel syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 6.7e-05)
- Structural context available