E48D (p.Glu48Asp) variant of BMPR2 (Q13873)
E48D (p.Glu48Asp) in BMPR2 (Q13873) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
E48D (p.Glu48Asp) variant details
- p.Glu48Asp
- NCI-TCGA TCGA novel
- gnomAD rs1355532683
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.56
- CADD 19.80
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available