R38C (p.Arg38Cys) variant of ATP6V1B1 (P15313)
R38C (p.Arg38Cys) in ATP6V1B1 (P15313) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Renal tubular acidosis with progressive nerve deafness; ATP6V1B1-r. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
R38C (p.Arg38Cys) variant details
- p.Arg38Cys
- rs145773738
- ClinGen CA1700836
- cosmic curated COSV52265
- ClinVar RCV001137239
- Uncertain significance
- not provided; Renal tubular acidosis with progressive nerve deafness; ATP6V1B1-r
- Missense
- Variant Prioritization Score for Impact Estimate 0.718
- REVEL 0.74
- CADD 27.00
- PolyPhen-2 0.61
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Renal tubular acidosis with progressive nerve deaf)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.0014)
- 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)