G113E (p.Gly113Glu) variant of PLAT (P00750)
G113E (p.Gly113Glu) in PLAT (P00750) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
G113E (p.Gly113Glu) variant details
- p.Gly113Glu
- ExAC rs755255849
- gnomAD rs755255849
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- REVEL 0.84
- CADD 25.80
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available