R38S (p.Arg38Ser) variant of ATP6V1B1 (P15313)
R38S (p.Arg38Ser) 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 0.64 / 1. The record also includes population frequency data and structural context.
R38S (p.Arg38Ser) variant details
- p.Arg38Ser
- ESP rs145773738
- ExAC rs145773738
- TOPMed rs145773738
- gnomAD rs145773738
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- REVEL 0.64
- CADD 23.40
- PolyPhen-2 0.03
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available