R6G (p.Arg6Gly) variant of PLAT (P00750)
R6G (p.Arg6Gly) in PLAT (P00750) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
R6G (p.Arg6Gly) variant details
- p.Arg6Gly
- TOPMed rs1805751751
- gnomAD rs1805751751
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.54
- CADD 10.30
- PolyPhen-2 0.01
- SIFT 0.26
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available