M57V (p.Met57Val) variant of ACAN (Aggrecan core protein)
M57V (p.Met57Val) in ACAN (Aggrecan core protein) is a missense change. Clinical records from ClinVar 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 0.11 / 1. The record also includes population frequency data and structural context.
M57V (p.Met57Val) variant details
- p.Met57Val
- TOPMed rs1159549993
- gnomAD rs1159549993
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.113
- CADD 4.69
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available