T115S (p.Thr115Ser) variant of COL6A3 (Collagen alpha-3(VI) chain)
T115S (p.Thr115Ser) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
T115S (p.Thr115Ser) variant details
- p.Thr115Ser
- TOPMed rs1243322338
- gnomAD rs1243322338
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.17
- MetaLR 0.18
- MetaSVM -0.92
- CADD 10.30
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available