P88R (p.Pro88Arg) variant of ATP6V0A4 (Q9HBG4)
P88R (p.Pro88Arg) in ATP6V0A4 (Q9HBG4) 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
P88R (p.Pro88Arg) variant details
- p.Pro88Arg
- rs200954029
- ClinGen CA369378248
- ClinVar RCV002805040
- ESP rs200954029
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- REVEL 0.78
- ESM-1b 1.00
- AlphaMissense 0.81
- MetaLR 0.81
- MetaSVM 0.81
- CADD 26.20
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- 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)