I48T (p.Ile48Thr) variant of PLAU (P00749)
I48T (p.Ile48Thr) in PLAU (P00749) 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 0.26 / 1. The record also includes population frequency data and structural context.
I48T (p.Ile48Thr) variant details
- p.Ile48Thr
- ExAC rs764051398
- gnomAD rs764051398
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.10
- MetaLR 0.13
- MetaSVM -1.03
- CADD 20.70
- PolyPhen-2 0.06
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 6.7e-05)
- Structural context available