N519K (p.Asn519Lys) variant of BMPR2 (Q13873)
N519K (p.Asn519Lys) in BMPR2 (Q13873) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Pulmonary hypertension, primary, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes published literature and structural context.
N519K (p.Asn519Lys) variant details
- p.Asn519Lys
- rs1085307365
- ClinGen CA350344965
- ClinVar RCV000488811
- UniProt VAR 013683
- Pathogenic
- Pulmonary hypertension, primary, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- AlphaMissense 0.96
- MetaLR 0.65
- MetaSVM 0.15
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.67
- ClinVar: Pathogenic (Pulmonary hypertension, primary, 1)
- EBI: Pathogenic (in PPH1)
- UniProt: Pathogenic (in PPH1)
- Structural context available
- Cited in: Functional analysis of bone morphogenetic protein type II receptor mutations underlying primary pulmonary hypertension. (PMID 12045205)
- Cited in: Heritable Pulmonary Arterial Hypertension Overview. (PMID 20301658)