N19T (p.Asn19Thr) variant of MPL (Thrombopoietin receptor)
N19T (p.Asn19Thr) in MPL (Thrombopoietin receptor) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
N19T (p.Asn19Thr) variant details
- p.Asn19Thr
- rs2153916116
- gnomAD 1-43337900-CA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.521
- CADD 21.50
- Population evidence available
- Structural context available
- TpoR activation by low dosage of romi-peptide: score 1.4
- Literature evidence available