Y73C (p.Tyr73Cys) variant of OTC (P00480)
Y73C (p.Tyr73Cys) in OTC (P00480) 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 0.66 / 1. The record also includes population frequency data and structural context.
Y73C (p.Tyr73Cys) variant details
- p.Tyr73Cys
- rs2519952325
- ClinGen CA412716768
- ClinVar RCV003317774
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- REVEL 0.72
- MetaLR 0.94
- MetaSVM 1.02
- CADD 25.50
- PolyPhen-2 0.77
- SIFT 0.13
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.2e-06)
- Structural context available