G117D (p.Gly117Asp) variant of SLC4A1 (Band 3 anion transport protein)
G117D (p.Gly117Asp) in SLC4A1 (Band 3 anion transport protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
G117D (p.Gly117Asp) variant details
- p.Gly117Asp
- ESP rs367854785
- TOPMed rs367854785
- gnomAD rs367854785
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.758
- REVEL 0.88
- CADD 29.60
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available