G1302E (p.Gly1302Glu) variant of ABCA3 (Q99758)
G1302E (p.Gly1302Glu) in ABCA3 (Q99758) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Interstitial lung disease due to ABCA3 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
G1302E (p.Gly1302Glu) variant details
- p.Gly1302Glu
- rs2093657978
- ClinGen CA394312485
- ClinVar RCV001260995
- UniProt VAR 084253
- Likely pathogenic
- Interstitial lung disease due to ABCA3 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- AlphaMissense 0.95
- MetaLR 0.87
- MetaSVM 0.92
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.73
- ClinVar: Likely pathogenic (Interstitial lung disease due to ABCA3 deficiency)
- EBI: Likely pathogenic (in SMDP3)
- UniProt: Likely pathogenic (in SMDP3)
- Structural context available
- Cited in: ABCA3 mutations associated with pediatric interstitial lung disease. (PMID 15976379)
- Cited in: ABCA3 gene mutations in newborns with fatal surfactant deficiency. (PMID 15044640)