R58C (p.Arg58Cys) variant of PLAT (P00750)
R58C (p.Arg58Cys) in PLAT (P00750) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
R58C (p.Arg58Cys) variant details
- p.Arg58Cys
- ExAC rs767004270
- TOPMed rs767004270
- gnomAD rs767004270
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- REVEL 0.62
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available