P248L (p.Pro248Leu) variant of ABCA3 (Q99758)
P248L (p.Pro248Leu) 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; Interstitial lung disea. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
P248L (p.Pro248Leu) variant details
- p.Pro248Leu
- rs771984033
- ClinGen CA7841534
- cosmic curated COSV10644
- ClinVar RCV002385062
- Pathogenic/Likely pathogenic
- Hereditary pulmonary alveolar proteinosis; not provided; Interstitial lung disea
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- REVEL 0.85
- MetaLR 0.87
- MetaSVM 0.95
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Hereditary pulmonary alveolar proteinosis; not provided; Interst)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available