S301P (p.Ser301Pro) variant of BMPR2 (Q13873)
S301P (p.Ser301Pro) in BMPR2 (Q13873) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Pulmonary arterial hypertension. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes published literature and structural context.
S301P (p.Ser301Pro) variant details
- p.Ser301Pro
- rs876657748
- ClinGen CA10576586
- ClinVar RCV000215404
- ClinVar RCV000488745
- Pathogenic
- Pulmonary arterial hypertension
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- AlphaMissense 0.90
- MetaLR 0.15
- MetaSVM -0.89
- PolyPhen-2 0.05
- SIFT 0.09
- EVE 0.50
- ClinVar: Pathogenic (Pulmonary arterial hypertension)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Heritable Pulmonary Arterial Hypertension Overview. (PMID 20301658)