R29G (p.Arg29Gly) variant of PLAT (P00750)
R29G (p.Arg29Gly) in PLAT (P00750) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
R29G (p.Arg29Gly) variant details
- p.Arg29Gly
- TOPMed rs1244225099
- gnomAD rs1244225099
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.50
- CADD 23.30
- PolyPhen-2 0.51
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available