A16T (p.Ala16Thr) variant of ACVRL1 (Activin receptor type-1-like)
A16T (p.Ala16Thr) in ACVRL1 (Activin receptor type-1-like) is a missense 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.
A16T (p.Ala16Thr) variant details
- p.Ala16Thr
- gnomAD 12-51912466-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.109
- CADD 3.98
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available