C420R (p.Cys420Arg) variant of BMPR2 (Q13873)
C420R (p.Cys420Arg) 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 0.88 / 1. The record also includes published literature and structural context.
C420R (p.Cys420Arg) variant details
- p.Cys420Arg
- rs1085307324
- ClinGen CA350341977
- NCI-TCGA Cosmic COSV1010
- cosmic curated COSV10100
- Pathogenic
- Pulmonary arterial hypertension
- Missense
- Variant Prioritization Score for Impact Estimate 0.884
- AlphaMissense 1.00
- MetaLR 0.84
- MetaSVM 0.86
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.89
- ClinVar: Pathogenic (Pulmonary arterial hypertension)
- 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)