D52N (p.Asp52Asn) variant of CPS1 (P31327)
D52N (p.Asp52Asn) 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 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
D52N (p.Asp52Asn) variant details
- p.Asp52Asn
- rs141481633
- ClinGen CA2085951
- ClinVar RCV001240876
- ClinVar RCV001788431
- Conflicting interpretations
- Inborn genetic diseases; not provided; Congenital hyperammonemia, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- REVEL 0.70
- CADD 24.70
- PolyPhen-2 0.48
- SIFT 0.05
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided; Congenital hyperammonemia)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- 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)