W16C (p.Trp16Cys) variant of COL6A1 (Collagen alpha-1(VI) chain)
W16C (p.Trp16Cys) in COL6A1 (Collagen alpha-1(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 0.60 / 1. The record also includes population frequency data and structural context.
W16C (p.Trp16Cys) variant details
- p.Trp16Cys
- NCI-TCGA TCGA novel
- Ensembl rs2077709127
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- REVEL 0.62
- CADD 24.30
- PolyPhen-2 0.99
- SIFT 0.11
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 0.00016)
- Structural context available