T5A (p.Thr5Ala) variant of COL6A2 (Collagen alpha-2(VI) chain)
T5A (p.Thr5Ala) in COL6A2 (Collagen alpha-2(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
T5A (p.Thr5Ala) variant details
- p.Thr5Ala
- gnomAD 21-46111489-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.29
- CADD 0.80
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Literature evidence available