G21G (p.Gly21Gly) variant of ACVRL1 (Activin receptor type-1-like)
G21G (p.Gly21Gly) in ACVRL1 (Activin receptor type-1-like) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
G21G (p.Gly21Gly) variant details
- p.Gly21Gly
- gnomAD 12-51913100-A-C
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.0807
- CADD 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available