S27S (p.Ser27Ser) variant of ACVRL1 (Activin receptor type-1-like)
S27S (p.Ser27Ser) in ACVRL1 (Activin receptor type-1-like) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
S27S (p.Ser27Ser) variant details
- p.Ser27Ser
- gnomAD 12-51913118-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.134
- CADD 7.55
- Population evidence available
- Structural context available
- Literature evidence available