L39V (p.Leu39Val) variant of ABCA3 (Q99758)
L39V (p.Leu39Val) in ABCA3 (Q99758) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Hereditary pulmonary alveolar proteinosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
L39V (p.Leu39Val) variant details
- p.Leu39Val
- rs200090198
- ClinGen CA7841782
- ClinVar RCV002963411
- 1000Genomes rs200090198
- Conflicting interpretations
- not provided; Hereditary pulmonary alveolar proteinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- REVEL 0.88
- CADD 22.70
- PolyPhen-2 0.79
- SIFT 0.19
- ClinVar: Conflicting classifications of pathogenicity (not provided; Hereditary pulmonary alveolar proteinosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YI population (allele frequency 0.1)
- Structural context available