I65L (p.Ile65Leu) variant of COL6A2 (Collagen alpha-2(VI) chain)
I65L (p.Ile65Leu) 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, published literature, and structural context.
I65L (p.Ile65Leu) variant details
- p.Ile65Leu
- gnomAD 21-46112056-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.09
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.03
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Literature evidence available