P30Q (p.Pro30Gln) variant of OTC (P00480)
P30Q (p.Pro30Gln) in OTC (P00480) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Ornithine carbamoyltransferase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
P30Q (p.Pro30Gln) variant details
- p.Pro30Gln
- rs753712951
- ClinGen CA10385789
- ClinVar RCV001966154
- ClinVar RCV003355712
- Conflicting interpretations
- Inborn genetic diseases; Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.41
- MetaLR 0.87
- MetaSVM 0.47
- CADD 19.20
- PolyPhen-2 0.06
- SIFT 0.08
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Ornithine carbamoyltransferase deficien)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 0.00019)
- 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)