I26V (p.Ile26Val) variant of PLAT (P00750)
I26V (p.Ile26Val) in PLAT (P00750) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
I26V (p.Ile26Val) variant details
- p.Ile26Val
- TOPMed rs1214042840
- gnomAD rs1214042840
- Missense
- Variant Prioritization Score for Impact Estimate 0.144
- REVEL 0.18
- CADD 4.59
- PolyPhen-2 0.01
- SIFT 0.48
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available