R23Q (p.Arg23Gln) variant of ATP6V1B1 (P15313)
R23Q (p.Arg23Gln) in ATP6V1B1 (P15313) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Renal tubular acidosis with progressive nerve deafness; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
R23Q (p.Arg23Gln) variant details
- p.Arg23Gln
- rs782447716
- ClinGen CA347176796
- ClinVar RCV002793557
- ClinVar RCV005028364
- Uncertain significance
- Renal tubular acidosis with progressive nerve deafness; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.141
- REVEL 0.16
- CADD 7.59
- PolyPhen-2 0.00
- SIFT 0.29
- ClinVar: Uncertain significance (Renal tubular acidosis with progressive nerve deafness; Inborn g)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00027)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)