T23S (p.Thr23Ser) variant of COL6A3 (Collagen alpha-3(VI) chain)
T23S (p.Thr23Ser) 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 0.28 / 1. The record also includes population frequency data and structural context.
T23S (p.Thr23Ser) variant details
- p.Thr23Ser
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.16
- MetaLR 0.59
- MetaSVM -0.33
- CADD 20.40
- PolyPhen-2 0.06
- SIFT 0.22
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available