C127S (p.Cys127Ser) variant of PLAT (P00750)
C127S (p.Cys127Ser) in PLAT (P00750) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
C127S (p.Cys127Ser) variant details
- p.Cys127Ser
- ESP rs376455032
- ExAC rs376455032
- TOPMed rs376455032
- gnomAD rs376455032
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- REVEL 0.87
- CADD 25.30
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available