S21L (p.Ser21Leu) variant of PLAT (P00750)
S21L (p.Ser21Leu) in PLAT (P00750) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
S21L (p.Ser21Leu) variant details
- p.Ser21Leu
- ExAC rs777690688
- TOPMed rs777690688
- gnomAD rs777690688
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.46
- CADD 0.02
- PolyPhen-2 0.00
- SIFT 0.87
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available