L3F (p.Leu3Phe) variant of ACVRL1 (Activin receptor type-1-like)
L3F (p.Leu3Phe) in ACVRL1 (Activin receptor type-1-like) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
L3F (p.Leu3Phe) variant details
- p.Leu3Phe
- ExAC rs779236098
- TOPMed rs779236098
- gnomAD rs779236098
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- CADD 7.44
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- Structural context available