P37L (p.Pro37Leu) variant of MPL (Thrombopoietin receptor)
P37L (p.Pro37Leu) in MPL (Thrombopoietin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P37L (p.Pro37Leu) variant details
- p.Pro37Leu
- gnomAD 1-43338129-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.12
- MetaLR 0.20
- MetaSVM -0.91
- CADD 19.60
- PolyPhen-2 0.07
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- TpoR activation by low dosage of Tpo: score 0.851
- Literature evidence available