A70V (p.Ala70Val) variant of ACAN (Aggrecan core protein)
A70V (p.Ala70Val) in ACAN (Aggrecan core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
A70V (p.Ala70Val) variant details
- p.Ala70Val
- gnomAD 15-88838801-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- CADD 22.40
- PolyPhen-2 0.03
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available