V39A (p.Val39Ala) variant of PLAT (P00750)
V39A (p.Val39Ala) in PLAT (P00750) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
V39A (p.Val39Ala) variant details
- p.Val39Ala
- 1000Genomes rs780104546
- ExAC rs780104546
- gnomAD rs780104546
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.27
- CADD 0.00
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available