V52M (p.Val52Met) variant of ATP6V1B1 (P15313)
V52M (p.Val52Met) in ATP6V1B1 (P15313) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Renal tubular acidosis with progressive nerve deafness. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
V52M (p.Val52Met) variant details
- p.Val52Met
- rs1553416800
- TOPMed rs1553416800
- gnomAD rs1553416800
- Uncertain significance
- Inborn genetic diseases; Renal tubular acidosis with progressive nerve deafness
- Missense
- Variant Prioritization Score for Impact Estimate 0.733
- REVEL 0.72
- CADD 23.40
- PolyPhen-2 0.52
- SIFT 0.28
- ClinVar: Uncertain significance (Inborn genetic diseases; Renal tubular acidosis with progressive)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available