T45S (p.Thr45Ser) variant of ACAN (Aggrecan core protein)
T45S (p.Thr45Ser) in ACAN (Aggrecan core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
T45S (p.Thr45Ser) variant details
- p.Thr45Ser
- gnomAD 15-88838726-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- CADD 8.85
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available