S76T (p.Ser76Thr) variant of ACAN (Aggrecan core protein)
S76T (p.Ser76Thr) in ACAN (Aggrecan core protein) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
S76T (p.Ser76Thr) variant details
- p.Ser76Thr
- TOPMed rs1399907758
- gnomAD rs1399907758
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- CADD 24.80
- PolyPhen-2 0.39
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available