T33N (p.Thr33Asn) variant of ACVRL1 (Activin receptor type-1-like)
T33N (p.Thr33Asn) in ACVRL1 (Activin receptor type-1-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
T33N (p.Thr33Asn) variant details
- p.Thr33Asn
- gnomAD 12-51913135-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.20
- CADD 13.90
- PolyPhen-2 0.01
- SIFT 0.50
- Population evidence available
- Structural context available
- Literature evidence available