N27D (p.Asn27Asp) variant of ACAN (Aggrecan core protein)
N27D (p.Asn27Asp) in ACAN (Aggrecan core protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data.
N27D (p.Asn27Asp) variant details
- p.Asn27Asp
- rs1329297647
- ClinGen CA393714690
- ClinVar RCV001893785
- TOPMed rs1329297647
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- CADD 20.50
- PolyPhen-2 0.01
- SIFT 0.65
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)