A58V (p.Ala58Val) variant of MPL (Thrombopoietin receptor)
A58V (p.Ala58Val) in MPL (Thrombopoietin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Essential thrombocythemia; Congenital amegakaryocytic thrombocytopenia; Congenit. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
A58V (p.Ala58Val) variant details
- p.Ala58Val
- rs6087
- ClinGen CA806590
- cosmic curated COSV10099
- ClinVar RCV001272210
- Conflicting interpretations
- Essential thrombocythemia; Congenital amegakaryocytic thrombocytopenia; Congenit
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.10
- MetaLR 0.15
- MetaSVM -0.90
- CADD 22.00
- PolyPhen-2 0.53
- SIFT 0.10
- ClinVar: Conflicting classifications of pathogenicity (Essential thrombocythemia; Congenital amegakaryocytic thrombocyt)
- EBI: Likely benign (in dbSNP:rs6087)
- UniProt: Likely benign (in dbSNP:rs6087)
- Most common in the 1KG:CHB population (allele frequency 0.0098)
- Structural context available
- Cited in: Characterization of single-nucleotide polymorphisms in coding regions of human genes. (PMID 10391209)