I53S (p.Ile53Ser) variant of OTC (P00480)
I53S (p.Ile53Ser) 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 0.91 / 1. The record also includes structural context.
I53S (p.Ile53Ser) variant details
- p.Ile53Ser
- rs66677059
- ClinGen CA224484
- ClinVar RCV000083352
- Ensembl rs66677059
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.908
- AlphaMissense 0.91
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available