M57T (p.Met57Thr) variant of ACAN (Aggrecan core protein)
M57T (p.Met57Thr) in ACAN (Aggrecan core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
M57T (p.Met57Thr) variant details
- p.Met57Thr
- TOPMed rs998783686
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- CADD 12.50
- PolyPhen-2 0.00
- SIFT 0.33
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available