Y113C (p.Tyr113Cys) variant of BMPR2 (Q13873)
Y113C (p.Tyr113Cys) 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 0.86 / 1. The record also includes published literature and structural context.
Y113C (p.Tyr113Cys) variant details
- p.Tyr113Cys
- rs1085307209
- ClinGen CA350399701
- cosmic curated COSV65811
- ClinVar RCV000488555
- Pathogenic
- Pulmonary hypertension, primary, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.865
- AlphaMissense 0.90
- MetaLR 0.93
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.65
- ClinVar: Pathogenic (Pulmonary hypertension, primary, 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Heritable Pulmonary Arterial Hypertension Overview. (PMID 20301658)