P44T (p.Pro44Thr) variant of ACVRL1 (Activin receptor type-1-like)
P44T (p.Pro44Thr) in ACVRL1 (Activin receptor type-1-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
P44T (p.Pro44Thr) variant details
- p.Pro44Thr
- gnomAD 12-51913167-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.21
- CADD 6.85
- PolyPhen-2 0.00
- SIFT 0.69
- Population evidence available
- Structural context available
- Literature evidence available