S29L (p.Ser29Leu) variant of MPL (Thrombopoietin receptor)
S29L (p.Ser29Leu) in MPL (Thrombopoietin receptor) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S29L (p.Ser29Leu) variant details
- p.Ser29Leu
- rs752416111
- gnomAD 1-43338101-GTC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.535
- CADD 24.30
- Population evidence available
- Structural context available
- TpoR activation by low dosage of romi-peptide: score 1.61
- Literature evidence available