I46V (p.Ile46Val) variant of BMPR2 (Q13873)
I46V (p.Ile46Val) in BMPR2 (Q13873) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Pulmonary hypertension, primary, 1; Pulmonary venoocclusive diseas. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
I46V (p.Ile46Val) variant details
- p.Ile46Val
- rs759804753
- ClinGen CA241419
- ClinVar RCV000175688
- ClinVar RCV002492748
- Uncertain significance
- not provided; Pulmonary hypertension, primary, 1; Pulmonary venoocclusive diseas
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.32
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.37
- ClinVar: Uncertain significance (not provided; Pulmonary hypertension, primary, 1; Pulmonary veno)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Heritable Pulmonary Arterial Hypertension Overview. (PMID 20301658)