I49M (p.Ile49Met) variant of ACAN (Aggrecan core protein)
I49M (p.Ile49Met) 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 0.60 / 1. The record also includes population frequency data and structural context.
I49M (p.Ile49Met) variant details
- p.Ile49Met
- rs1249230063
- ClinGen CA393714818
- ClinVar RCV003550321
- gnomAD rs1249230063
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- CADD 24.70
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available