T19S (p.Thr19Ser) variant of ACVRL1 (Activin receptor type-1-like)
T19S (p.Thr19Ser) in ACVRL1 (Activin receptor type-1-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
T19S (p.Thr19Ser) variant details
- p.Thr19Ser
- gnomAD 12-51912472-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- CADD 18.10
- Population evidence available
- Structural context available
- Literature evidence available