L10F (p.Leu10Phe) variant of ACVRL1 (Activin receptor type-1-like)
L10F (p.Leu10Phe) in ACVRL1 (Activin receptor type-1-like) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
L10F (p.Leu10Phe) variant details
- p.Leu10Phe
- gnomAD 12-51912455-TGCTC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.418
- CADD 8.98
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available
- Literature evidence available