I26T (p.Ile26Thr) variant of COL6A2 (Collagen alpha-2(VI) chain)
I26T (p.Ile26Thr) in COL6A2 (Collagen alpha-2(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
I26T (p.Ile26Thr) variant details
- p.Ile26Thr
- TOPMed rs1344130177
- gnomAD rs1344130177
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.11
- CADD 13.00
- PolyPhen-2 0.00
- SIFT 0.53
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available