P635L (p.Pro635Leu) variant of MPL (Thrombopoietin receptor)
P635L (p.Pro635Leu) in MPL (Thrombopoietin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Essential thrombocythemia; Congenital amegakaryocytic thrombocytopenia; Thromboc. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
P635L (p.Pro635Leu) variant details
- p.Pro635Leu
- rs121913612
- ClinGen CA123777
- ClinVar RCV000015220
- ClinVar RCV001378786
- Pathogenic/Likely pathogenic
- Essential thrombocythemia; Congenital amegakaryocytic thrombocytopenia; Thromboc
- Missense
- Variant Prioritization Score for Impact Estimate 0.686
- REVEL 0.76
- MetaLR 0.66
- MetaSVM 0.47
- CADD 23.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Essential thrombocythemia; Congenital amegakaryocytic thrombocyt)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available
- Cited in: Compound heterozygosity for two different amino-acid substitution mutations in the thrombopoietin receptor (c-mpl gene)… (PMID 11071383)
- Cited in: Functional analysis of single amino-acid mutations in the thrombopoietin-receptor Mpl underlying congenital… (PMID 18422784)