K39N (p.Lys39Asn) variant of MPL (Thrombopoietin receptor)
K39N (p.Lys39Asn) in MPL (Thrombopoietin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Essential thrombocythemia; Congenital amegakaryocytic thrombocytopenia; not spec. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K39N (p.Lys39Asn) variant details
- p.Lys39Asn
- rs17292650
- ClinGen CA123787
- cosmic curated COSV65244
- ClinVar RCV000015225
- Benign/Likely benign
- Essential thrombocythemia; Congenital amegakaryocytic thrombocytopenia; not spec
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.23
- MetaLR 0.06
- MetaSVM -1.01
- CADD 13.90
- PolyPhen-2 0.01
- SIFT 0.23
- ClinVar: Benign/Likely benign (Essential thrombocythemia; Congenital amegakaryocytic thrombocyt)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:ASW population (allele frequency 0.078)
- Structural context available
- TpoR activation by high dosage of lusutrombopag: score 0.924
- Cited in: Mpl Baltimore: a thrombopoietin receptor polymorphism associated with thrombocytosis. (PMID 15269348)