L39I (p.Leu39Ile) variant of ABCA3 (Q99758)
L39I (p.Leu39Ile) in ABCA3 (Q99758) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
L39I (p.Leu39Ile) variant details
- p.Leu39Ile
- rs200090198
- ClinGen CA276853867
- ClinVar RCV003230948
- 1000Genomes rs200090198
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- REVEL 0.60
- CADD 22.70
- PolyPhen-2 0.58
- SIFT 0.18
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available