Q42R (p.Gln42Arg) variant of BMPR2 (Q13873)
Q42R (p.Gln42Arg) in BMPR2 (Q13873) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pulmonary arterial hypertension. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes structural context.
Q42R (p.Gln42Arg) variant details
- p.Gln42Arg
- rs1085307167
- ClinGen CA350399166
- ClinVar RCV000488460
- ClinVar RCV005051782
- Uncertain significance
- Pulmonary arterial hypertension
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- AlphaMissense 0.09
- MetaLR 0.91
- MetaSVM 1.01
- PolyPhen-2 0.55
- SIFT 0.15
- EVE 0.22
- ClinVar: Uncertain significance (Pulmonary arterial hypertension)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available