Q30R (p.Gln30Arg) variant of BMPR2 (Q13873)
Q30R (p.Gln30Arg) in BMPR2 (Q13873) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pulmonary hypertension, primary, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
Q30R (p.Gln30Arg) variant details
- p.Gln30Arg
- rs747740309
- ClinGen CA2061035
- ClinVar RCV003225679
- ExAC rs747740309
- Uncertain significance
- Pulmonary hypertension, primary, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- AlphaMissense 0.08
- MetaLR 0.81
- MetaSVM 0.59
- PolyPhen-2 0.00
- SIFT 0.22
- EVE 0.08
- ClinVar: Uncertain significance (Pulmonary hypertension, primary, 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Heritable Pulmonary Arterial Hypertension Overview. (PMID 20301658)