K42M (p.Lys42Met) variant of ACVRL1 (Activin receptor type-1-like)
K42M (p.Lys42Met) 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, published literature, and structural context.
K42M (p.Lys42Met) variant details
- p.Lys42Met
- gnomAD 12-51913162-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.46
- CADD 11.40
- PolyPhen-2 0.41
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available