A2T (p.Ala2Thr) variant of ATP6V1B1 (P15313)
A2T (p.Ala2Thr) in ATP6V1B1 (P15313) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- ESP rs142881463
- ExAC rs142881463
- TOPMed rs142881463
- gnomAD rs142881463
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available