E44D (p.Glu44Asp) variant of PLAT (P00750)
E44D (p.Glu44Asp) in PLAT (P00750) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
E44D (p.Glu44Asp) variant details
- p.Glu44Asp
- gnomAD rs1264091169
- Missense
- Variant Prioritization Score for Impact Estimate 0.0993
- REVEL 0.09
- CADD 3.11
- PolyPhen-2 0.00
- SIFT 0.22
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available