L48I (p.Leu48Ile) variant of MPL (Thrombopoietin receptor)
L48I (p.Leu48Ile) in MPL (Thrombopoietin receptor) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes variant effect predictions, experimental measurements, and structural context.
L48I (p.Leu48Ile) variant details
- p.Leu48Ile
- NCI-TCGA Cosmic COSV6524
- cosmic curated COSV65247
- Variant assessed as somatic; moderate impact.
- Missense
- MetaLR 0.52
- MetaSVM 0.15
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available
- TpoR activation by high dosage of lusutrombopag: score 0.449