L39F (p.Leu39Phe) variant of ABCA3 (Q99758)
L39F (p.Leu39Phe) in ABCA3 (Q99758) 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 0.66 / 1. The record also includes population frequency data and structural context.
L39F (p.Leu39Phe) variant details
- p.Leu39Phe
- 1000Genomes rs200090198
- ESP rs200090198
- ExAC rs200090198
- TOPMed rs200090198
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- REVEL 0.78
- CADD 24.50
- PolyPhen-2 0.99
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available