K42Q (p.Lys42Gln) variant of ACVRL1 (Activin receptor type-1-like)
K42Q (p.Lys42Gln) in ACVRL1 (Activin receptor type-1-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
K42Q (p.Lys42Gln) variant details
- p.Lys42Gln
- gnomAD rs1418659982
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.27
- CADD 15.40
- PolyPhen-2 0.01
- SIFT 0.54
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available