K42K (p.Lys42Lys) variant of ACVRL1 (Activin receptor type-1-like)
K42K (p.Lys42Lys) in ACVRL1 (Activin receptor type-1-like) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
K42K (p.Lys42Lys) variant details
- p.Lys42Lys
- gnomAD 12-51913163-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.463
- CADD 8.64
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available