V83I (p.Val83Ile) variant of PLAT (P00750)
V83I (p.Val83Ile) in PLAT (P00750) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
V83I (p.Val83Ile) variant details
- p.Val83Ile
- TOPMed rs1358829045
- gnomAD rs1358829045
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.14
- CADD 6.73
- PolyPhen-2 0.00
- SIFT 0.26
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available