P265L (p.Pro265Leu) variant of CPS1 (P31327)
P265L (p.Pro265Leu) in CPS1 (P31327) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Pulmonary hypertension, neonatal, susceptibility to; Congenital hyperammonemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
P265L (p.Pro265Leu) variant details
- p.Pro265Leu
- rs1433029121
- ClinGen CA350429825
- ClinVar RCV003155635
- ClinVar RCV003466025
- Likely pathogenic
- Pulmonary hypertension, neonatal, susceptibility to; Congenital hyperammonemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- REVEL 0.92
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Pulmonary hypertension, neonatal, susceptibility to; Congenital)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)