L4S (p.Leu4Ser) variant of ACAN (Aggrecan core protein)
L4S (p.Leu4Ser) in ACAN (Aggrecan core protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
L4S (p.Leu4Ser) variant details
- p.Leu4Ser
- rs202166561
- ClinGen CA7719112
- ClinVar RCV001972215
- ESP rs202166561
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- CADD 25.00
- PolyPhen-2 0.70
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available