Y128C (p.Tyr128Cys) variant of PLAT (P00750)
Y128C (p.Tyr128Cys) in PLAT (P00750) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
Y128C (p.Tyr128Cys) variant details
- p.Tyr128Cys
- ESP rs375775114
- ExAC rs375775114
- gnomAD rs375775114
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.45
- CADD 24.80
- PolyPhen-2 0.95
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available