V39E (p.Val39Glu) variant of PLAT (P00750)
V39E (p.Val39Glu) in PLAT (P00750) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
V39E (p.Val39Glu) variant details
- p.Val39Glu
- 1000Genomes rs780104546
- ExAC rs780104546
- gnomAD rs780104546
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.49
- CADD 0.01
- PolyPhen-2 0.06
- SIFT 0.95
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- Structural context available