Q20R (p.Gln20Arg) variant of ACVRL1 (Activin receptor type-1-like)
Q20R (p.Gln20Arg) in ACVRL1 (Activin receptor type-1-like) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
Q20R (p.Gln20Arg) variant details
- p.Gln20Arg
- gnomAD 12-51912529-AC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.359
- CADD 24.20
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available