I14I (p.Ile14Ile) variant of COL6A2 (Collagen alpha-2(VI) chain)
I14I (p.Ile14Ile) in COL6A2 (Collagen alpha-2(VI) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
I14I (p.Ile14Ile) variant details
- p.Ile14Ile
- rs199759601
- gnomAD 21-46111518-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.193
- CADD 6.60
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Literature evidence available