M48I (p.Met48Ile) variant of PLAT (P00750)
M48I (p.Met48Ile) in PLAT (P00750) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
M48I (p.Met48Ile) variant details
- p.Met48Ile
- ExAC rs756298909
- TOPMed rs756298909
- gnomAD rs756298909
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.12
- CADD 15.40
- PolyPhen-2 0.12
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available