C119Y (p.Cys119Tyr) variant of PLAT (P00750)
C119Y (p.Cys119Tyr) in PLAT (P00750) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
C119Y (p.Cys119Tyr) variant details
- p.Cys119Tyr
- ExAC rs751767279
- gnomAD rs751767279
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- REVEL 0.77
- CADD 26.40
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available