S85I (p.Ser85Ile) variant of PLAT (P00750)
S85I (p.Ser85Ile) in PLAT (P00750) 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 0.35 / 1. The record also includes population frequency data and structural context.
S85I (p.Ser85Ile) variant details
- p.Ser85Ile
- TOPMed rs1450445524
- gnomAD rs1450445524
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.27
- CADD 21.30
- PolyPhen-2 0.09
- SIFT 0.05
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available