T3T (p.Thr3Thr) variant of ACAN (Aggrecan core protein)
T3T (p.Thr3Thr) in ACAN (Aggrecan core protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
T3T (p.Thr3Thr) variant details
- p.Thr3Thr
- rs1474930785
- gnomAD 15-88836215-T-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.235
- CADD 11.40
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available