R23P (p.Arg23Pro) variant of ATP6V1B1 (P15313)
R23P (p.Arg23Pro) in ATP6V1B1 (P15313) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
R23P (p.Arg23Pro) variant details
- p.Arg23Pro
- ExAC rs782447716
- TOPMed rs782447716
- gnomAD rs782447716
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.58
- CADD 14.60
- PolyPhen-2 0.12
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available