T23I (p.Thr23Ile) variant of COL6A3 (Collagen alpha-3(VI) chain)
T23I (p.Thr23Ile) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
T23I (p.Thr23Ile) variant details
- p.Thr23Ile
- gnomAD rs1314859774
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.17
- MetaLR 0.44
- MetaSVM -0.48
- CADD 16.00
- PolyPhen-2 0.01
- SIFT 0.60
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available