T45P (p.Thr45Pro) variant of ACAN (Aggrecan core protein)
T45P (p.Thr45Pro) in ACAN (Aggrecan core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
T45P (p.Thr45Pro) variant details
- p.Thr45Pro
- Ensembl rs1596130612
- Missense
- Variant Prioritization Score for Impact Estimate 0.767
- CADD 22.70
- PolyPhen-2 0.20
- SIFT 0.01
- Population evidence available
- Structural context available