L42V (p.Leu42Val) variant of ACAN (Aggrecan core protein)
L42V (p.Leu42Val) 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 0.58 / 1. The record also includes population frequency data and structural context.
L42V (p.Leu42Val) variant details
- p.Leu42Val
- gnomAD rs1896568910
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- CADD 15.10
- PolyPhen-2 0.07
- SIFT 0.71
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available