P2A (p.Pro2Ala) variant of MPL (Thrombopoietin receptor)
P2A (p.Pro2Ala) 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.
P2A (p.Pro2Ala) variant details
- p.Pro2Ala
- ExAC rs763338238
- gnomAD rs763338238
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- REVEL 0.41
- MetaLR 0.67
- MetaSVM 0.10
- CADD 23.80
- PolyPhen-2 0.87
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- TpoR activation by low dosage of romi-peptide: score 1.39