T3N (p.Thr3Asn) variant of ACAN (Aggrecan core protein)
T3N (p.Thr3Asn) in ACAN (Aggrecan core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
T3N (p.Thr3Asn) variant details
- p.Thr3Asn
- TOPMed rs1896499281
- gnomAD rs1896499281
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- CADD 25.20
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available