T2T (p.Thr2Thr) variant of ACAN (Aggrecan core protein)
T2T (p.Thr2Thr) in ACAN (Aggrecan core protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
T2T (p.Thr2Thr) variant details
- p.Thr2Thr
- rs775539020
- gnomAD 15-88836212-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.628
- CADD 11.00
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Literature evidence available