F12L (p.Phe12Leu) variant of APOA1 (Apolipoprotein A-I)
F12L (p.Phe12Leu) in APOA1 (Apolipoprotein A-I) is a missense change. Clinical records from ClinVar 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 0.32 / 1. The record also includes population frequency data and structural context.
F12L (p.Phe12Leu) variant details
- p.Phe12Leu
- Ensembl rs1318581391
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.18
- CADD 23.80
- PolyPhen-2 0.04
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available