V9I (p.Val9Ile) variant of MPL (Thrombopoietin receptor)
V9I (p.Val9Ile) in MPL (Thrombopoietin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V9I (p.Val9Ile) variant details
- p.Val9Ile
- gnomAD 1-43337873-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.24
- MetaLR 0.42
- MetaSVM -0.62
- CADD 21.80
- PolyPhen-2 0.54
- SIFT 0.17
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- TpoR activation by high dosage of lusutrombopag: score 1.03
- Literature evidence available