N52T (p.Asn52Thr) variant of PLAU (P00749)
N52T (p.Asn52Thr) 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 0.07 / 1. The record also includes population frequency data and structural context.
N52T (p.Asn52Thr) variant details
- p.Asn52Thr
- TOPMed rs1332555318
- gnomAD rs1332555318
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.07
- REVEL 0.02
- MetaLR 0.06
- MetaSVM -1.02
- CADD 0.57
- PolyPhen-2 0.15
- SIFT 0.39
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available