Y44C (p.Tyr44Cys) variant of PLAU (P00749)
Y44C (p.Tyr44Cys) in PLAU (P00749) is a missense change. Clinical records from ClinVar 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 0.55 / 1. The record also includes population frequency data and structural context.
Y44C (p.Tyr44Cys) variant details
- p.Tyr44Cys
- cosmic curated COSV65640
- ESP rs374232402
- ExAC rs374232402
- TOPMed rs374232402
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- REVEL 0.61
- MetaLR 0.73
- MetaSVM 0.35
- CADD 24.80
- PolyPhen-2 0.97
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00058)
- Structural context available