W435R (p.Trp435Arg) variant of MPL (Thrombopoietin receptor)
W435R (p.Trp435Arg) in MPL (Thrombopoietin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes structural context.
W435R (p.Trp435Arg) variant details
- p.Trp435Arg
- rs1553128241
- TOPMed rs1553128241
- ClinGen CA339983781
- ClinVar RCV000501453
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- AlphaMissense 0.96
- MetaLR 0.74
- MetaSVM 0.57
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.39
- ClinVar: Uncertain significance (not specified)
- EBI: Likely pathogenic (in CAMT1)
- UniProt: Likely pathogenic (in CAMT1)
- Structural context available