T19T (p.Thr19Thr) variant of ACVRL1 (Activin receptor type-1-like)
T19T (p.Thr19Thr) in ACVRL1 (Activin receptor type-1-like) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
T19T (p.Thr19Thr) variant details
- p.Thr19Thr
- gnomAD 12-51912531-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.253
- CADD 10.80
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available