L43V (p.Leu43Val) variant of ACAN (Aggrecan core protein)
L43V (p.Leu43Val) in ACAN (Aggrecan core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
L43V (p.Leu43Val) variant details
- p.Leu43Val
- TOPMed rs1269536364
- gnomAD rs1269536364
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- CADD 24.20
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available