W4C (p.Trp4Cys) variant of MPL (Thrombopoietin receptor)
W4C (p.Trp4Cys) in MPL (Thrombopoietin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
W4C (p.Trp4Cys) variant details
- p.Trp4Cys
- gnomAD 1-43337860-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- REVEL 0.70
- MetaLR 0.69
- MetaSVM 0.43
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.00
- 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