T2T (p.Thr2Thr) variant of ACVRL1 (Activin receptor type-1-like)
T2T (p.Thr2Thr) in ACVRL1 (Activin receptor type-1-like) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
T2T (p.Thr2Thr) variant details
- p.Thr2Thr
- gnomAD 12-51912444-T-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.115
- CADD 4.79
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available