I51V (p.Ile51Val) variant of BMPR2 (Q13873)
I51V (p.Ile51Val) 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 0.50 / 1. The record also includes population frequency data and structural context.
I51V (p.Ile51Val) variant details
- p.Ile51Val
- TOPMed rs1466796813
- gnomAD rs1466796813
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.46
- CADD 17.50
- PolyPhen-2 0.01
- SIFT 0.89
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available