G7R (p.Gly7Arg) variant of PLAT (P00750)
G7R (p.Gly7Arg) in PLAT (P00750) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
G7R (p.Gly7Arg) variant details
- p.Gly7Arg
- gnomAD rs1485707068
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.53
- CADD 7.20
- PolyPhen-2 0.15
- SIFT 0.17
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available