K12R (p.Lys12Arg) variant of AGXT (P21549)
K12R (p.Lys12Arg) in AGXT (P21549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of AGXT-related disorder; Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K12R (p.Lys12Arg) variant details
- p.Lys12Arg
- rs142969817
- ClinGen CA275546
- ClinVar RCV000186221
- ClinVar RCV000881725
- Conflicting interpretations
- AGXT-related disorder; Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 12.40
- PolyPhen-2 0.01
- SIFT 0.29
- ClinVar: Conflicting classifications of pathogenicity (AGXT-related disorder; Inborn genetic diseases; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available
- AGXT complementation assay *2 b: score 1.17
- 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)