T30A (p.Thr30Ala) variant of COL6A2 (Collagen alpha-2(VI) chain)
T30A (p.Thr30Ala) in COL6A2 (Collagen alpha-2(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
T30A (p.Thr30Ala) variant details
- p.Thr30Ala
- Ensembl rs2078398787
- Missense
- Variant Prioritization Score for Impact Estimate 0.113
- REVEL 0.14
- CADD 0.74
- PolyPhen-2 0.00
- SIFT 0.62
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available