Q100K (p.Gln100Lys) variant of COL6A3 (Collagen alpha-3(VI) chain)
Q100K (p.Gln100Lys) 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 0.48 / 1. The record also includes population frequency data and structural context.
Q100K (p.Gln100Lys) variant details
- p.Gln100Lys
- NCI-TCGA TCGA novel
- Variant assessed as somatic; high impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.33
- MetaLR 0.43
- MetaSVM -0.52
- CADD 23.40
- PolyPhen-2 0.58
- SIFT 0.04
- UniProt: Variant assessed as somatic; high impact.
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available