N19N (p.Asn19Asn) variant of MPL (Thrombopoietin receptor)
N19N (p.Asn19Asn) in MPL (Thrombopoietin receptor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
N19N (p.Asn19Asn) variant details
- p.Asn19Asn
- gnomAD 1-43337905-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.344
- CADD 8.85
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- TpoR activation by low dosage of romi-peptide: score 1.4
- Literature evidence available