P70L (p.Pro70Leu) variant of MPL (Thrombopoietin receptor)
P70L (p.Pro70Leu) in MPL (Thrombopoietin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia; not spec. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
P70L (p.Pro70Leu) variant details
- p.Pro70Leu
- rs61754776
- ClinGen CA160813
- cosmic curated COSV65246
- ClinVar RCV000121534
- Likely benign
- Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia; not spec
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.14
- MetaLR 0.21
- MetaSVM -0.85
- CADD 18.00
- PolyPhen-2 0.13
- SIFT 0.34
- ClinVar: Likely benign (Congenital amegakaryocytic thrombocytopenia; Essential thrombocy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:DAI population (allele frequency 0.056)
- Structural context available