P2S (p.Pro2Ser) variant of MPL (Thrombopoietin receptor)
P2S (p.Pro2Ser) in MPL (Thrombopoietin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P2S (p.Pro2Ser) variant details
- p.Pro2Ser
- ExAC rs763338238
- gnomAD rs763338238
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- REVEL 0.39
- MetaLR 0.71
- MetaSVM 0.27
- CADD 24.30
- PolyPhen-2 0.91
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- TpoR activation by low dosage of romi-peptide: score 1.39