L13P (p.Leu13Pro) variant of MPL (Thrombopoietin receptor)
L13P (p.Leu13Pro) in MPL (Thrombopoietin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L13P (p.Leu13Pro) variant details
- p.Leu13Pro
- gnomAD 1-43337886-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.679
- REVEL 0.71
- MetaLR 0.67
- MetaSVM 0.41
- CADD 27.00
- PolyPhen-2 0.96
- SIFT 0.01
- Population evidence available
- Structural context available
- TpoR activation by low dosage of romi-peptide: score 1.69
- Literature evidence available