G14A (p.Gly14Ala) variant of ATP6V1B1 (P15313)
G14A (p.Gly14Ala) 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 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
G14A (p.Gly14Ala) variant details
- p.Gly14Ala
- rs782513986
- ClinGen CA49687422
- ClinVar RCV003210084
- ClinVar RCV005029939
- Uncertain significance
- Inborn genetic diseases; Renal tubular acidosis with progressive nerve deafness
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.22
- CADD 12.40
- PolyPhen-2 0.00
- SIFT 0.10
- ClinVar: Uncertain significance (Inborn genetic diseases; Renal tubular acidosis with progressive)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- 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)