T62I (p.Thr62Ile) variant of MPL (Thrombopoietin receptor)
T62I (p.Thr62Ile) in MPL (Thrombopoietin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Congenital amegakaryocytic thrombocytopenia; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
T62I (p.Thr62Ile) variant details
- p.Thr62Ile
- rs201727975
- ClinGen CA806592
- ClinVar RCV001578625
- ClinVar RCV001751802
- Uncertain significance
- Congenital amegakaryocytic thrombocytopenia; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.137
- REVEL 0.06
- MetaLR 0.11
- MetaSVM -1.05
- CADD 9.19
- PolyPhen-2 0.01
- SIFT 0.15
- ClinVar: Uncertain significance (Congenital amegakaryocytic thrombocytopenia; not specified; not)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available