L14L (p.Leu14Leu) variant of ACVRL1 (Activin receptor type-1-like)
L14L (p.Leu14Leu) in ACVRL1 (Activin receptor type-1-like) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
L14L (p.Leu14Leu) variant details
- p.Leu14Leu
- rs1940713401
- gnomAD 12-51912514-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.367
- CADD 12.40
- Population evidence available
- Structural context available
- Literature evidence available