M57I (p.Met57Ile) variant of ACAN (Aggrecan core protein)
M57I (p.Met57Ile) in ACAN (Aggrecan core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
M57I (p.Met57Ile) variant details
- p.Met57Ile
- ExAC rs750953875
- TOPMed rs750953875
- gnomAD rs750953875
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- CADD 17.20
- PolyPhen-2 0.00
- SIFT 0.54
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available