E117Q (p.Glu117Gln) variant of ABCA3 (Q99758)
E117Q (p.Glu117Gln) in ABCA3 (Q99758) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes variant effect predictions and structural context.
E117Q (p.Glu117Gln) variant details
- p.Glu117Gln
- NCI-TCGA Cosmic COSV1000
- cosmic curated COSV10006
- Variant assessed as somatic; moderate impact.
- Missense
- MetaLR 0.80
- MetaSVM 0.65
- SIFT 0.08
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available