L69V (p.Leu69Val) variant of ACAN (Aggrecan core protein)
L69V (p.Leu69Val) in ACAN (Aggrecan core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
L69V (p.Leu69Val) variant details
- p.Leu69Val
- gnomAD 15-88838797-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- CADD 22.50
- PolyPhen-2 0.99
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available