S35P (p.Ser35Pro) variant of MPL (Thrombopoietin receptor)
S35P (p.Ser35Pro) in MPL (Thrombopoietin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S35P (p.Ser35Pro) variant details
- p.Ser35Pro
- gnomAD 1-43338122-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.04
- MetaLR 0.02
- MetaSVM -0.99
- CADD 15.40
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- TpoR activation by low dosage of lusutrombopag: score 2.06
- Literature evidence available