N19K (p.Asn19Lys) variant of MPL (Thrombopoietin receptor)
N19K (p.Asn19Lys) in MPL (Thrombopoietin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Congenital amegakaryocytic thrombocytopenia; Essential. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
N19K (p.Asn19Lys) variant details
- p.Asn19Lys
- rs752706183
- ClinGen CA806552
- ClinVar RCV002852457
- ClinVar RCV002875591
- Conflicting interpretations
- Inborn genetic diseases; Congenital amegakaryocytic thrombocytopenia; Essential
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.17
- MetaLR 0.32
- MetaSVM -0.73
- CADD 21.60
- PolyPhen-2 0.01
- SIFT 0.20
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Congenital amegakaryocytic thrombocytop)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- TpoR activation by low dosage of romi-peptide: score 1.4
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)