V41I (p.Val41Ile) variant of ACAN (Aggrecan core protein)
V41I (p.Val41Ile) in ACAN (Aggrecan core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
V41I (p.Val41Ile) variant details
- p.Val41Ile
- gnomAD 15-88838713-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- CADD 24.10
- PolyPhen-2 0.46
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available