D27V (p.Asp27Val) variant of SLC2A2 (P11168)
D27V (p.Asp27Val) 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 0.57 / 1. The record also includes population frequency data and structural context.
D27V (p.Asp27Val) variant details
- p.Asp27Val
- rs2108262016
- ClinGen CA355480615
- ClinVar RCV001984278
- Ensembl rs2108262016
- Uncertain significance
- Fanconi-Bickel syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- REVEL 0.54
- CADD 24.10
- PolyPhen-2 0.35
- SIFT 0.00
- ClinVar: Uncertain significance (Fanconi-Bickel syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available