S11S (p.Ser11Ser) variant of MPL (Thrombopoietin receptor)
S11S (p.Ser11Ser) in MPL (Thrombopoietin receptor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S11S (p.Ser11Ser) variant details
- p.Ser11Ser
- rs1194559296
- gnomAD 1-43337881-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.299
- CADD 10.80
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available
- TpoR activation by low dosage of romi-peptide: score 1.09
- Literature evidence available