T62A (p.Thr62Ala) variant of ACAN (Aggrecan core protein)
T62A (p.Thr62Ala) 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.
T62A (p.Thr62Ala) variant details
- p.Thr62Ala
- gnomAD 15-88838776-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- CADD 24.00
- PolyPhen-2 0.65
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available