T2P (p.Thr2Pro) variant of ACVRL1 (Activin receptor type-1-like)
T2P (p.Thr2Pro) in ACVRL1 (Activin receptor type-1-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
T2P (p.Thr2Pro) variant details
- p.Thr2Pro
- gnomAD 12-51912442-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0804
- CADD 0.42
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available