A25E (p.Ala25Glu) variant of CPS1 (P31327)
A25E (p.Ala25Glu) in CPS1 (P31327) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Inborn genetic diseases; Congenital hyperammonemia, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
A25E (p.Ala25Glu) variant details
- p.Ala25Glu
- rs149570645
- ClinGen CA2085931
- ClinVar RCV002283302
- ClinVar RCV003096356
- Conflicting interpretations
- not provided; Inborn genetic diseases; Congenital hyperammonemia, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- REVEL 0.41
- CADD 16.60
- PolyPhen-2 0.01
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Inborn genetic diseases; Congenital hyperammonemia)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- 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)