L5F (p.Leu5Phe) variant of CPS1 (P31327)
L5F (p.Leu5Phe) in CPS1 (P31327) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Congenital hyperammonemia, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes published literature and structural context.
L5F (p.Leu5Phe) variant details
- p.Leu5Phe
- rs1696924953
- ClinGen CA350432183
- ClinVar RCV001279817
- Ensembl rs1696924953
- Uncertain significance
- Congenital hyperammonemia, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- AlphaMissense 0.14
- MetaLR 0.92
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.26
- ClinVar: Uncertain significance (Congenital hyperammonemia, type I)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)