T62K (p.Thr62Lys) variant of MPL (Thrombopoietin receptor)
T62K (p.Thr62Lys) in MPL (Thrombopoietin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
T62K (p.Thr62Lys) variant details
- p.Thr62Lys
- gnomAD 1-43338204-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.12
- MetaLR 0.17
- MetaSVM -0.93
- CADD 10.30
- PolyPhen-2 0.21
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available