S66F (p.Ser66Phe) variant of CPS1 (P31327)
S66F (p.Ser66Phe) in CPS1 (P31327) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
S66F (p.Ser66Phe) variant details
- p.Ser66Phe
- TOPMed rs1384532433
- gnomAD rs1384532433
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.748
- REVEL 0.75
- CADD 24.00
- PolyPhen-2 0.15
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available