Q117E (p.Gln117Glu) variant of COL6A3 (Collagen alpha-3(VI) chain)
Q117E (p.Gln117Glu) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
Q117E (p.Gln117Glu) variant details
- p.Gln117Glu
- rs1559279697
- NCI-TCGA Cosmic COSV5509
- gnomAD rs1559279697
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.15
- MetaLR 0.25
- MetaSVM -0.91
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 0.37
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available