D55H (p.Asp55His) variant of ACAN (Aggrecan core protein)
D55H (p.Asp55His) 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 0.51 / 1. The record also includes population frequency data and structural context.
D55H (p.Asp55His) variant details
- p.Asp55His
- rs763861381
- ClinGen CA393714856
- ClinVar RCV002628199
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- CADD 22.10
- PolyPhen-2 0.16
- SIFT 0.07
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available