A28E (p.Ala28Glu) variant of ATP6V1B1 (P15313)
A28E (p.Ala28Glu) in ATP6V1B1 (P15313) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Renal tubular acidosis with progressive nerve deafness. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
A28E (p.Ala28Glu) variant details
- p.Ala28Glu
- 1000Genomes rs200569195
- ExAC rs200569195
- gnomAD rs200569195
- Uncertain significance
- Renal tubular acidosis with progressive nerve deafness
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.64
- CADD 23.80
- PolyPhen-2 0.94
- SIFT 0.01
- ClinVar: Uncertain significance (Renal tubular acidosis with progressive nerve deafness)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available