F48S (p.Phe48Ser) variant of OTC (P00480)
F48S (p.Phe48Ser) in OTC (P00480) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
F48S (p.Phe48Ser) variant details
- p.Phe48Ser
- rs72554315
- ClinGen CA224467
- ClinVar RCV000083343
- Ensembl rs72554315
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- REVEL 0.78
- MetaLR 0.97
- MetaSVM 1.11
- CADD 25.60
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.5e-05)
- Structural context available