L102Q (p.Leu102Gln) variant of IDS (Iduronate 2-sulfatase)
L102Q (p.Leu102Gln) in IDS (Iduronate 2-sulfatase) is a missense change. Clinical records from ClinVar, EBI, 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 0.82 / 1. The record also includes population frequency data and structural context.
L102Q (p.Leu102Gln) variant details
- p.Leu102Gln
- gnomAD rs1557340261
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.818
- REVEL 0.96
- AlphaMissense 0.82
- MetaLR 0.96
- MetaSVM 1.10
- CADD 26.50
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Likely pathogenic (in MPS2)
- UniProt: Likely pathogenic (in MPS2)
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00016)
- Structural context available