R50S (p.Arg50Ser) variant of BMPR2 (Q13873)
R50S (p.Arg50Ser) in BMPR2 (Q13873) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Primary pulmonary hypertension. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
R50S (p.Arg50Ser) variant details
- p.Arg50Ser
- rs201759998
- ClinGen CA350399269
- ClinVar RCV003089746
- ExAC rs201759998
- Likely benign
- Primary pulmonary hypertension
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.63
- CADD 22.50
- PolyPhen-2 0.09
- SIFT 0.12
- ClinVar: Likely benign (Primary pulmonary hypertension)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available