F1077I (p.Phe1077Ile) variant of ABCA3 (Q99758)
F1077I (p.Phe1077Ile) 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 0.28 / 1. The record also includes population frequency data and structural context.
F1077I (p.Phe1077Ile) variant details
- p.Phe1077Ile
- rs1195611781
- ClinGen CA394319330
- ClinVar RCV002445530
- ClinVar RCV005239362
- Pathogenic/Likely pathogenic
- Hereditary pulmonary alveolar proteinosis; not provided; Interstitial lung disea
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.25
- CADD 20.60
- PolyPhen-2 0.01
- SIFT 0.31
- ClinVar: Pathogenic/Likely pathogenic (Hereditary pulmonary alveolar proteinosis; not provided; Interst)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available