A13P (p.Ala13Pro) variant of AGXT (P21549)
A13P (p.Ala13Pro) in AGXT (P21549) 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 0.26 / 1. The record also includes experimental measurements, published literature, and structural context.
A13P (p.Ala13Pro) variant details
- p.Ala13Pro
- rs2528738973
- ClinGen CA351312764
- ClinVar RCV003309067
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- ESM-1b 0.00
- AlphaMissense 0.13
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- AGXT complementation assay *2 B: score 1.14
- 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)