A25V (p.Ala25Val) variant of CPS1 (P31327)
A25V (p.Ala25Val) in CPS1 (P31327) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Congenital hyperammonemia, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
A25V (p.Ala25Val) variant details
- p.Ala25Val
- rs149570645
- ClinGen CA2085932
- ClinVar RCV001373549
- 1000Genomes rs149570645
- Likely benign
- Congenital hyperammonemia, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.32
- CADD 17.60
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Likely benign (Congenital hyperammonemia, type I)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00028)
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)