I26M (p.Ile26Met) variant of COL6A2 (Collagen alpha-2(VI) chain)
I26M (p.Ile26Met) in COL6A2 (Collagen alpha-2(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
I26M (p.Ile26Met) variant details
- p.Ile26Met
- gnomAD rs1601215453
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.06
- CADD 8.54
- PolyPhen-2 0.05
- SIFT 0.12
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available