H306P (p.His306Pro) variant of BMPR2 (Q13873)
H306P (p.His306Pro) in BMPR2 (Q13873) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Pulmonary arterial hypertension. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes structural context.
H306P (p.His306Pro) variant details
- p.His306Pro
- rs1574489046
- ClinGen CA350340815
- ClinVar RCV001003699
- Ensembl rs1574489046
- Likely pathogenic
- Pulmonary arterial hypertension
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- AlphaMissense 0.90
- MetaLR 0.83
- MetaSVM 0.78
- PolyPhen-2 0.94
- SIFT 0.07
- EVE 0.78
- ClinVar: Likely pathogenic (Pulmonary arterial hypertension)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available