I14P (p.Ile14Pro) variant of COL6A2 (Collagen alpha-2(VI) chain)
I14P (p.Ile14Pro) in COL6A2 (Collagen alpha-2(VI) chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
I14P (p.Ile14Pro) variant details
- p.Ile14Pro
- gnomAD 21-46111508-TCTGG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.46
- CADD 24.70
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available