V9L (p.Val9Leu) variant of ACAN (Aggrecan core protein)
V9L (p.Val9Leu) in ACAN (Aggrecan core protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of ACAN-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes structural context.
V9L (p.Val9Leu) variant details
- p.Val9Leu
- rs776631256
- ClinGen CA393713715
- ClinVar RCV004552401
- Uncertain significance
- ACAN-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- AlphaMissense 0.38
- MetaLR 0.01
- MetaSVM -0.96
- PolyPhen-2 0.54
- SIFT 0.06
- EVE 0.13
- ClinVar: Uncertain significance (ACAN-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available