S63I (p.Ser63Ile) variant of PLAT (P00750)
S63I (p.Ser63Ile) in PLAT (P00750) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
S63I (p.Ser63Ile) variant details
- p.Ser63Ile
- ExAC rs769465426
- TOPMed rs769465426
- gnomAD rs769465426
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.19
- CADD 17.70
- PolyPhen-2 0.29
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available