K46R (p.Lys46Arg) variant of OTC (P00480)
K46R (p.Lys46Arg) in OTC (P00480) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Inborn genetic diseases; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
K46R (p.Lys46Arg) variant details
- p.Lys46Arg
- rs1800321
- ClinGen CA121291
- ClinVar RCV000011741
- ClinVar RCV000079082
- Benign
- Inborn genetic diseases; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.41
- MetaLR 0.00
- MetaSVM -1.18
- CADD 21.20
- PolyPhen-2 0.16
- SIFT 0.15
- ClinVar: Benign (Inborn genetic diseases; not specified; not provided)
- EBI: Benign (in dbSNP:rs1800321)
- UniProt: Benign (in dbSNP:rs1800321)
- Most common in the HGDP:MBUTI population (allele frequency 1)
- Structural context available
- Cited in: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID 15489334)
- Cited in: Scanning detection of mutations in human ornithine transcarbamoylase by chemical mismatch cleavage. (PMID 2474822)