R75C (p.Arg75Cys) variant of MPL (Thrombopoietin receptor)
R75C (p.Arg75Cys) in MPL (Thrombopoietin receptor) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Essential thrombocythemia; Congenital amegakaryocytic thrombocytopenia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
R75C (p.Arg75Cys) variant details
- p.Arg75Cys
- rs756918176
- NCI-TCGA Cosmic COSV6524
- cosmic curated COSV65247
- ExAC rs756918176
- Uncertain significance
- Essential thrombocythemia; Congenital amegakaryocytic thrombocytopenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.66
- REVEL 0.65
- MetaLR 0.64
- MetaSVM 0.35
- CADD 27.00
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (Essential thrombocythemia; Congenital amegakaryocytic thrombocyt)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available