T96I (p.Thr96Ile) variant of PLAT (P00750)
T96I (p.Thr96Ile) in PLAT (P00750) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
T96I (p.Thr96Ile) variant details
- p.Thr96Ile
- TOPMed rs1445739162
- gnomAD rs1445739162
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.51
- CADD 7.19
- PolyPhen-2 0.31
- SIFT 0.12
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available