K982R (p.Lys982Arg) variant of BMPR2 (Q13873)
K982R (p.Lys982Arg) 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 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
K982R (p.Lys982Arg) variant details
- p.Lys982Arg
- rs1085307403
- ClinGen CA350350436
- ClinVar RCV000488588
- Ensembl rs1085307403
- Pathogenic
- Pulmonary hypertension, primary, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- REVEL 0.56
- CADD 27.30
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Pulmonary hypertension, primary, 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Heritable Pulmonary Arterial Hypertension Overview. (PMID 20301658)