G114E (p.Gly114Glu) variant of COL6A3 (Collagen alpha-3(VI) chain)
G114E (p.Gly114Glu) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
G114E (p.Gly114Glu) variant details
- p.Gly114Glu
- NCI-TCGA Cosmic COSV5509
- ExAC rs755534257
- gnomAD rs755534257
- Variant assessed as somatic; high impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- REVEL 0.42
- MetaLR 0.54
- MetaSVM -0.34
- CADD 21.80
- PolyPhen-2 0.21
- SIFT 0.01
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available