I51L (p.Ile51Leu) variant of BMPR2 (Q13873)
I51L (p.Ile51Leu) 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 0.59 / 1. The record also includes population frequency data and structural context.
I51L (p.Ile51Leu) variant details
- p.Ile51Leu
- TOPMed rs1466796813
- gnomAD rs1466796813
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- REVEL 0.58
- CADD 22.20
- PolyPhen-2 0.12
- SIFT 0.29
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available