M57K (p.Met57Lys) variant of ACAN (Aggrecan core protein)
M57K (p.Met57Lys) in ACAN (Aggrecan core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
M57K (p.Met57Lys) variant details
- p.Met57Lys
- gnomAD 15-88838762-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- CADD 15.40
- PolyPhen-2 0.05
- SIFT 0.10
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Literature evidence available