R32Q (p.Arg32Gln) variant of BMPR2 (Q13873)
R32Q (p.Arg32Gln) 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; Pulmonary venoocclusive disease 1; Inborn ge. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
R32Q (p.Arg32Gln) variant details
- p.Arg32Gln
- rs368430622
- cosmic curated COSV10100
- ESP rs368430622
- ExAC rs368430622
- Uncertain significance
- Pulmonary hypertension, primary, 1; Pulmonary venoocclusive disease 1; Inborn ge
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- REVEL 0.62
- CADD 27.80
- PolyPhen-2 0.62
- SIFT 0.01
- ClinVar: Uncertain significance (Pulmonary hypertension, primary, 1; Pulmonary venoocclusive dise)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available