T45A (p.Thr45Ala) variant of ACAN (Aggrecan core protein)
T45A (p.Thr45Ala) in ACAN (Aggrecan core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
T45A (p.Thr45Ala) variant details
- p.Thr45Ala
- gnomAD 15-88838725-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- CADD 22.00
- PolyPhen-2 0.01
- SIFT 0.03
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available