S35A (p.Ser35Ala) variant of MPL (Thrombopoietin receptor)
S35A (p.Ser35Ala) in MPL (Thrombopoietin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S35A (p.Ser35Ala) variant details
- p.Ser35Ala
- gnomAD rs1253003822
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.07
- MetaLR 0.16
- MetaSVM -1.01
- CADD 14.70
- PolyPhen-2 0.05
- SIFT 0.84
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- TpoR activation by low dosage of lusutrombopag: score 2.06