N126S (p.Asn126Ser) variant of BMPR2 (Q13873)
N126S (p.Asn126Ser) in BMPR2 (Q13873) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Primary pulmonary hypertension; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
N126S (p.Asn126Ser) variant details
- p.Asn126Ser
- rs863223426
- ClinGen CA323070
- NCI-TCGA Cosmic COSV1010
- cosmic curated COSV10100
- Pathogenic/Likely pathogenic
- Primary pulmonary hypertension; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.866
- AlphaMissense 0.60
- MetaLR 0.97
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.87
- ClinVar: Pathogenic/Likely pathogenic (Primary pulmonary hypertension; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Heritable Pulmonary Arterial Hypertension Overview. (PMID 20301658)