S3S (p.Ser3Ser) variant of MPL (Thrombopoietin receptor)
S3S (p.Ser3Ser) in MPL (Thrombopoietin receptor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S3S (p.Ser3Ser) variant details
- p.Ser3Ser
- gnomAD 1-43337857-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.21
- CADD 7.11
- Population evidence available
- Structural context available
- TpoR activation by high dosage of lusutrombopag: score 0.739
- Literature evidence available