L129F (p.Leu129Phe) variant of ACVR1 (Activin receptor type-1)
L129F (p.Leu129Phe) in ACVR1 (Activin receptor type-1) 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.
L129F (p.Leu129Phe) variant details
- p.Leu129Phe
- ExAC rs755755509
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.27
- CADD 20.50
- PolyPhen-2 0.05
- SIFT 0.14
- Population evidence available
- Structural context available