E37E (p.Glu37Glu) variant of ACVRL1 (Activin receptor type-1-like)
E37E (p.Glu37Glu) in ACVRL1 (Activin receptor type-1-like) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
E37E (p.Glu37Glu) variant details
- p.Glu37Glu
- rs781586192
- gnomAD 12-51913148-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.239
- CADD 2.18
- Most common in the Latino/Admixed American population (allele frequency 0.00032)
- Structural context available
- Literature evidence available