M15T (p.Met15Thr) variant of ACVRL1 (Activin receptor type-1-like)
M15T (p.Met15Thr) in ACVRL1 (Activin receptor type-1-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
M15T (p.Met15Thr) variant details
- p.Met15Thr
- gnomAD 12-51912518-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.21
- CADD 20.90
- PolyPhen-2 0.00
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available