S38I (p.Ser38Ile) variant of ACVRL1 (Activin receptor type-1-like)
S38I (p.Ser38Ile) 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.
S38I (p.Ser38Ile) variant details
- p.Ser38Ile
- gnomAD 12-51913150-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.35
- CADD 0.01
- PolyPhen-2 0.09
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available