I45I (p.Ile45Ile) variant of COL6A2 (Collagen alpha-2(VI) chain)
I45I (p.Ile45Ile) in COL6A2 (Collagen alpha-2(VI) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
I45I (p.Ile45Ile) variant details
- p.Ile45Ile
- gnomAD 21-46111998-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.216
- CADD 7.07
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Literature evidence available