P246L (p.Pro246Leu) variant of ABCA3 (Q99758)
P246L (p.Pro246Leu) in ABCA3 (Q99758) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hereditary pulmonary alveolar proteinosis; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
P246L (p.Pro246Leu) variant details
- p.Pro246Leu
- rs144653790
- ClinGen CA7841536
- NCI-TCGA Cosmic COSV5706
- ClinVar RCV003842976
- Pathogenic/Likely pathogenic
- Hereditary pulmonary alveolar proteinosis; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.839
- REVEL 0.85
- MetaLR 0.94
- MetaSVM 1.09
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Hereditary pulmonary alveolar proteinosis; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available