C34C (p.Cys34Cys) variant of ACVRL1 (Activin receptor type-1-like)
C34C (p.Cys34Cys) in ACVRL1 (Activin receptor type-1-like) is a synonymous 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.
C34C (p.Cys34Cys) variant details
- p.Cys34Cys
- rs1226848374
- gnomAD 12-51913139-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.276
- CADD 8.52
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available