L38F (p.Leu38Phe) variant of CPS1 (P31327)
L38F (p.Leu38Phe) 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 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
L38F (p.Leu38Phe) variant details
- p.Leu38Phe
- rs749164722
- ClinGen CA2085936
- ClinVar RCV001142800
- ExAC rs749164722
- Uncertain significance
- Congenital hyperammonemia, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.44
- CADD 18.00
- PolyPhen-2 0.00
- SIFT 0.12
- ClinVar: Uncertain significance (Congenital hyperammonemia, type I)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)