K8T (p.Lys8Thr) variant of ACVRL1 (Activin receptor type-1-like)
K8T (p.Lys8Thr) in ACVRL1 (Activin receptor type-1-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
K8T (p.Lys8Thr) variant details
- p.Lys8Thr
- ExAC rs770506876
- gnomAD rs770506876
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.24
- CADD 5.65
- PolyPhen-2 0.01
- SIFT 0.48
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available