Q134E (p.Gln134Glu) variant of SLC4A1 (Band 3 anion transport protein)
Q134E (p.Gln134Glu) in SLC4A1 (Band 3 anion transport protein) is a missense change. Clinical records from ClinVar 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 0.14 / 1. The record also includes population frequency data and structural context.
Q134E (p.Gln134Glu) variant details
- p.Gln134Glu
- ExAC rs772316375
- gnomAD rs772316375
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.142
- REVEL 0.08
- CADD 10.20
- PolyPhen-2 0.00
- SIFT 0.29
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available