M12I (p.Met12Ile) variant of ACVRL1 (Activin receptor type-1-like)
M12I (p.Met12Ile) in ACVRL1 (Activin receptor type-1-like) 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.
M12I (p.Met12Ile) variant details
- p.Met12Ile
- ExAC rs769326709
- gnomAD rs769326709
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.19
- CADD 20.70
- PolyPhen-2 0.00
- SIFT 0.22
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available