P30S (p.Pro30Ser) variant of OTC (P00480)
P30S (p.Pro30Ser) in OTC (P00480) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Ornithine carbamoyltransferase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
P30S (p.Pro30Ser) variant details
- p.Pro30Ser
- rs763877023
- ClinGen CA10385788
- ClinVar RCV002625542
- ClinVar RCV005455556
- Uncertain significance
- Inborn genetic diseases; Ornithine carbamoyltransferase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.32
- MetaLR 0.79
- MetaSVM 0.28
- CADD 15.40
- PolyPhen-2 0.00
- SIFT 0.37
- ClinVar: Uncertain significance (Inborn genetic diseases; Ornithine carbamoyltransferase deficien)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00055)
- 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)