L62F (p.Leu62Phe) variant of APOA1 (Apolipoprotein A-I)
L62F (p.Leu62Phe) in APOA1 (Apolipoprotein A-I) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
L62F (p.Leu62Phe) variant details
- p.Leu62Phe
- ExAC rs763248522
- TOPMed rs763248522
- gnomAD rs763248522
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.16
- REVEL 0.06
- CADD 22.40
- PolyPhen-2 0.03
- SIFT 0.03
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available