V1187F (p.Val1187Phe) variant of CPS1 (P31327)
V1187F (p.Val1187Phe) in CPS1 (P31327) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Congenital hyperammonemia, type I; Pulmonary hypertension, neonatal, susceptibil. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
V1187F (p.Val1187Phe) variant details
- p.Val1187Phe
- rs1250072284
- ClinGen CA350437621
- ClinVar RCV003008399
- ClinVar RCV005028119
- Likely pathogenic
- Congenital hyperammonemia, type I; Pulmonary hypertension, neonatal, susceptibil
- Missense
- Variant Prioritization Score for Impact Estimate 0.868
- REVEL 0.89
- CADD 33.00
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Likely pathogenic (Congenital hyperammonemia, type I; Pulmonary hypertension, neona)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)