R32W (p.Arg32Trp) variant of BMPR2 (Q13873)
R32W (p.Arg32Trp) in BMPR2 (Q13873) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
R32W (p.Arg32Trp) variant details
- p.Arg32Trp
- rs771887212
- ExAC rs771887212
- TOPMed rs771887212
- gnomAD rs771887212
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- REVEL 0.72
- CADD 30.00
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available