S5S (p.Ser5Ser) variant of ACVRL1 (Activin receptor type-1-like)
S5S (p.Ser5Ser) in ACVRL1 (Activin receptor type-1-like) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
S5S (p.Ser5Ser) variant details
- p.Ser5Ser
- rs772291573
- gnomAD 12-51912489-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.352
- CADD 4.40
- Population evidence available
- Structural context available
- Literature evidence available