G78R (p.Gly78Arg) variant of ATP6V1B1 (P15313)
G78R (p.Gly78Arg) in ATP6V1B1 (P15313) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; not provided; Renal tubular acidosis with progressive n. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
G78R (p.Gly78Arg) variant details
- p.Gly78Arg
- rs121964881
- ClinGen CA121986
- cosmic curated COSV52269
- ClinVar RCV000013015
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; not provided; Renal tubular acidosis with progressive n
- Missense
- Variant Prioritization Score for Impact Estimate 0.886
- REVEL 0.94
- CADD 28.90
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; not provided; Renal tubular acidosis wi)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 0.00022)
- Structural context available
- Cited in: A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal… (PMID 12566520)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)