G132D (p.Gly132Asp) variant of PLAT (P00750)
G132D (p.Gly132Asp) 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 0.73 / 1. The record also includes population frequency data and structural context.
G132D (p.Gly132Asp) variant details
- p.Gly132Asp
- ExAC rs755649494
- TOPMed rs755649494
- gnomAD rs755649494
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.734
- REVEL 0.71
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available