T45T (p.Thr45Thr) variant of ACAN (Aggrecan core protein)
T45T (p.Thr45Thr) in ACAN (Aggrecan core protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
T45T (p.Thr45Thr) variant details
- p.Thr45Thr
- rs372517447
- gnomAD 15-88838727-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.401
- CADD 6.74
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available