I54V (p.Ile54Val) variant of ACAN (Aggrecan core protein)
I54V (p.Ile54Val) in ACAN (Aggrecan core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
I54V (p.Ile54Val) variant details
- p.Ile54Val
- TOPMed rs1220719528
- gnomAD rs1220719528
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- CADD 20.10
- PolyPhen-2 0.08
- SIFT 0.39
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available