V1399M (p.Val1399Met) variant of ABCA3 (Q99758)
V1399M (p.Val1399Met) in ABCA3 (Q99758) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
V1399M (p.Val1399Met) variant details
- p.Val1399Met
- rs763166660
- ClinGen CA7840206
- ClinVar RCV002327802
- ClinVar RCV003324025
- Pathogenic
- Hereditary pulmonary alveolar proteinosis; not provided; Interstitial lung disea
- Missense
- Variant Prioritization Score for Impact Estimate 0.875
- REVEL 0.92
- MetaLR 0.93
- MetaSVM 1.08
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Hereditary pulmonary alveolar proteinosis; not provided; Interst)
- EBI: Pathogenic (in SMDP3)
- UniProt: Pathogenic (in SMDP3)
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Respiratory failure in a term infant with cis and trans mutations in ABCA3. (PMID 25712598)
- Cited in: ABCA3 gene mutations in newborns with fatal surfactant deficiency. (PMID 15044640)