S117F (p.Ser117Phe) variant of IDS (Iduronate 2-sulfatase)
S117F (p.Ser117Phe) 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 specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
S117F (p.Ser117Phe) variant details
- p.Ser117Phe
- rs2520895937
- ClinGen CA414526109
- ClinVar RCV003324317
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- REVEL 0.84
- CADD 24.60
- PolyPhen-2 0.32
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance (in MPS2)
- UniProt: Uncertain significance (in MPS2)
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available