E37D (p.Glu37Asp) variant of ACVRL1 (Activin receptor type-1-like)
E37D (p.Glu37Asp) in ACVRL1 (Activin receptor type-1-like) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
E37D (p.Glu37Asp) variant details
- p.Glu37Asp
- ExAC rs781586192
- TOPMed rs781586192
- gnomAD rs781586192
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.26
- CADD 2.68
- PolyPhen-2 0.01
- SIFT 0.30
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available