S11P (p.Ser11Pro) variant of MPL (Thrombopoietin receptor)
S11P (p.Ser11Pro) in MPL (Thrombopoietin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S11P (p.Ser11Pro) variant details
- p.Ser11Pro
- 1000Genomes rs2153916103
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.43
- MetaLR 0.53
- MetaSVM -0.16
- CADD 26.70
- PolyPhen-2 0.73
- SIFT 0.08
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- Structural context available
- TpoR activation by low dosage of romi-peptide: score 1.09