A2S (p.Ala2Ser) variant of ATP6V1B1 (P15313)
A2S (p.Ala2Ser) 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; not provided; Renal tubular acidosis with progressive n. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
A2S (p.Ala2Ser) variant details
- p.Ala2Ser
- rs142881463
- ClinGen CA1700808
- ClinVar RCV001581479
- ClinVar RCV001836456
- Uncertain significance
- Inborn genetic diseases; not provided; Renal tubular acidosis with progressive n
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.28
- CADD 24.40
- PolyPhen-2 0.73
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; Renal tubular acidosis wi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00039)
- 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)