C496W (p.Cys496Trp) variant of BMPR2 (Q13873)
C496W (p.Cys496Trp) in BMPR2 (Q13873) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Primary pulmonary hypertension. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes structural context.
C496W (p.Cys496Trp) variant details
- p.Cys496Trp
- rs2106042155
- ClinGen CA350344638
- ClinVar RCV002029280
- Ensembl rs2106042155
- Likely pathogenic
- Primary pulmonary hypertension
- Missense
- Variant Prioritization Score for Impact Estimate 0.872
- AlphaMissense 1.00
- MetaLR 0.88
- MetaSVM 0.78
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.94
- ClinVar: Likely pathogenic (Primary pulmonary hypertension)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available