T45I (p.Thr45Ile) variant of ACVRL1 (Activin receptor type-1-like)
T45I (p.Thr45Ile) in ACVRL1 (Activin receptor type-1-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
T45I (p.Thr45Ile) variant details
- p.Thr45Ile
- ExAC rs748772777
- gnomAD rs748772777
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.24
- CADD 16.20
- PolyPhen-2 0.01
- SIFT 0.08
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available