T2M (p.Thr2Met) variant of CPS1 (P31327)
T2M (p.Thr2Met) in CPS1 (P31327) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided; Congenital hyperammonemia, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
T2M (p.Thr2Met) variant details
- p.Thr2Met
- rs150314086
- ClinGen CA2085922
- ClinVar RCV000268597
- ClinVar RCV000523694
- Conflicting interpretations
- Inborn genetic diseases; not provided; Congenital hyperammonemia, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.42
- CADD 23.60
- PolyPhen-2 0.01
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided; Congenital hyperammonemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00096)
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)