T1114M (p.Thr1114Met) variant of ABCA3 (Q99758)
T1114M (p.Thr1114Met) in ABCA3 (Q99758) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Interstitial lung disease due to ABCA3 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
T1114M (p.Thr1114Met) variant details
- p.Thr1114Met
- rs891579143
- ClinGen CA276822666
- ClinVar RCV003388434
- ClinVar RCV003561331
- Likely pathogenic
- not provided; Interstitial lung disease due to ABCA3 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- REVEL 0.83
- CADD 27.60
- PolyPhen-2 0.96
- SIFT 0.03
- ClinVar: Likely pathogenic (not provided; Interstitial lung disease due to ABCA3 deficiency)
- EBI: Pathogenic (in SMDP3)
- UniProt: Pathogenic (in SMDP3)
- Most common in the Latino/Admixed American population (allele frequency 5.4e-05)
- 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)