E292V (p.Glu292Val) variant of ABCA3 (Q99758)
E292V (p.Glu292Val) in ABCA3 (Q99758) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Primary interstitial lung disease specific to childhood due to pulmonary surfact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
E292V (p.Glu292Val) variant details
- p.Glu292Val
- rs149989682
- ClinGen CA203885
- cosmic curated COSV10006
- ClinVar RCV000185556
- Pathogenic/Likely pathogenic
- Primary interstitial lung disease specific to childhood due to pulmonary surfact
- Missense
- Variant Prioritization Score for Impact Estimate 0.855
- REVEL 0.95
- MetaLR 0.87
- MetaSVM 0.97
- CADD 33.00
- PolyPhen-2 0.99
- SIFT 0.04
- ClinVar: Pathogenic/Likely pathogenic (Primary interstitial lung disease specific to childhood due to p)
- EBI: Pathogenic (in SMDP3)
- UniProt: Pathogenic (in SMDP3)
- Most common in the Amish population (allele frequency 0.018)
- Structural context available
- Cited in: ABCA3 mutations associated with pediatric interstitial lung disease. (PMID 15976379)
- Cited in: The surfactant lipid transporter ABCA3 is N-terminally cleaved inside LAMP3-positive vesicles. (PMID 20863830)