T3A (p.Thr3Ala) variant of ACAN (Aggrecan core protein)
T3A (p.Thr3Ala) in ACAN (Aggrecan core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
T3A (p.Thr3Ala) variant details
- p.Thr3Ala
- gnomAD 15-88836213-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- CADD 24.80
- PolyPhen-2 0.89
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Literature evidence available