P70P (p.Pro70Pro) variant of MPL (Thrombopoietin receptor)
P70P (p.Pro70Pro) in MPL (Thrombopoietin receptor) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
P70P (p.Pro70Pro) variant details
- p.Pro70Pro
- rs6086
- gnomAD 1-43338229-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.144
- CADD 8.90
- Most common in the HGDP:MANDENKA population (allele frequency 0.05)
- Structural context available
- Cited in: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American… (PMID 25741868)