E52D (p.Glu52Asp) variant of OTC (P00480)
E52D (p.Glu52Asp) in OTC (P00480) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes structural context.
E52D (p.Glu52Asp) variant details
- p.Glu52Asp
- rs72554318
- ClinGen CA224480
- ClinVar RCV000083350
- Ensembl rs72554318
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- AlphaMissense 0.45
- MetaLR 0.96
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.18
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available