D137G (p.Asp137Gly) variant of SLC4A1 (Band 3 anion transport protein)
D137G (p.Asp137Gly) 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 0.74 / 1. The record also includes population frequency data and structural context.
D137G (p.Asp137Gly) variant details
- p.Asp137Gly
- ExAC rs774589011
- gnomAD rs774589011
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- REVEL 0.80
- CADD 28.20
- PolyPhen-2 0.83
- SIFT 0.03
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available