R65Q (p.Arg65Gln) variant of PLAT (P00750)
R65Q (p.Arg65Gln) in PLAT (P00750) 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 0.27 / 1. The record also includes population frequency data and structural context.
R65Q (p.Arg65Gln) variant details
- p.Arg65Gln
- 1000Genomes rs202117167
- ExAC rs202117167
- TOPMed rs202117167
- gnomAD rs202117167
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.07
- CADD 22.00
- PolyPhen-2 0.04
- SIFT 0.04
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- Structural context available