W4L (p.Trp4Leu) variant of MPL (Thrombopoietin receptor)
W4L (p.Trp4Leu) in MPL (Thrombopoietin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
W4L (p.Trp4Leu) variant details
- p.Trp4Leu
- gnomAD 1-43337859-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- REVEL 0.50
- MetaLR 0.71
- MetaSVM 0.41
- CADD 26.50
- PolyPhen-2 0.98
- SIFT 0.03
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- TpoR activation by high dosage of lusutrombopag: score 1.08
- Literature evidence available