G94R (p.Gly94Arg) variant of PLAT (P00750)
G94R (p.Gly94Arg) in PLAT (P00750) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
G94R (p.Gly94Arg) variant details
- p.Gly94Arg
- ExAC rs776079671
- TOPMed rs776079671
- gnomAD rs776079671
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.58
- CADD 23.60
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available