G11E (p.Gly11Glu) variant of ATP6V1B1 (P15313)
G11E (p.Gly11Glu) in ATP6V1B1 (P15313) 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 0.37 / 1. The record also includes population frequency data and structural context.
G11E (p.Gly11Glu) variant details
- p.Gly11Glu
- TOPMed rs1053770030
- gnomAD rs1053770030
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.14
- CADD 15.00
- PolyPhen-2 0.03
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available