A28T (p.Ala28Thr) variant of COL6A1 (Collagen alpha-1(VI) chain)
A28T (p.Ala28Thr) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
A28T (p.Ala28Thr) variant details
- p.Ala28Thr
- gnomAD rs1274682105
- Missense
- Variant Prioritization Score for Impact Estimate 0.158
- REVEL 0.09
- CADD 14.40
- PolyPhen-2 0.02
- SIFT 0.21
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available