T33I (p.Thr33Ile) variant of ACVRL1 (Activin receptor type-1-like)
T33I (p.Thr33Ile) in ACVRL1 (Activin receptor type-1-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
T33I (p.Thr33Ile) variant details
- p.Thr33Ile
- TOPMed rs1940730238
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.37
- CADD 16.40
- PolyPhen-2 0.03
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available