G14R (p.Gly14Arg) variant of ATP6V1B1 (P15313)
G14R (p.Gly14Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
G14R (p.Gly14Arg) variant details
- p.Gly14Arg
- rs111306070
- ClinGen CA1700820
- ClinVar RCV002855969
- 1000Genomes rs111306070
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- REVEL 0.30
- CADD 0.01
- PolyPhen-2 0.01
- SIFT 0.03
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)