C205S (p.Cys205Ser) variant of IDUA (Alpha-L-iduronidase)
C205S (p.Cys205Ser) in IDUA (Alpha-L-iduronidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
C205S (p.Cys205Ser) variant details
- p.Cys205Ser
- Ensembl rs1715086540
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.714
- REVEL 0.80
- AlphaMissense 0.37
- MetaLR 0.83
- MetaSVM 0.65
- CADD 25.20
- PolyPhen-2 0.96
- ClinVar: Uncertain significance (not specified)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available