C123S (p.Cys123Ser) variant of BMPR2 (Q13873)
C123S (p.Cys123Ser) in BMPR2 (Q13873) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Pulmonary hypertension, primary, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
C123S (p.Cys123Ser) variant details
- p.Cys123Ser
- rs137852750
- ClinGen CA278093
- ClinVar RCV000009354
- UniProt VAR 013674
- Pathogenic
- Pulmonary hypertension, primary, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.956
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.87
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.90
- ClinVar: Pathogenic (Pulmonary hypertension, primary, 1)
- EBI: Pathogenic (in PPH1)
- UniProt: Pathogenic (in PPH1)
- Structural context available
- Cited in: BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension. (PMID 11115378)
- Cited in: Functional analysis of bone morphogenetic protein type II receptor mutations underlying primary pulmonary hypertension. (PMID 12045205)