K62E (p.Lys62Glu) variant of BMPR2 (Q13873)
K62E (p.Lys62Glu) in BMPR2 (Q13873) is a missense change. Clinical records from ClinVar, EBI, 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 0.55 / 1. The record also includes population frequency data and structural context.
K62E (p.Lys62Glu) variant details
- p.Lys62Glu
- TOPMed rs1324547976
- gnomAD rs1324547976
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- REVEL 0.52
- CADD 22.40
- PolyPhen-2 0.04
- SIFT 0.22
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available