F105L (p.Phe105Leu) variant of IDS (Iduronate 2-sulfatase)
F105L (p.Phe105Leu) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes published literature and structural context.
F105L (p.Phe105Leu) variant details
- p.Phe105Leu
- rs2124063363
- ClinGen CA414526426
- ClinVar RCV002704156
- Ensembl rs2124063363
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- AlphaMissense 0.95
- MetaLR 0.98
- MetaSVM 1.08
- PolyPhen-2 0.87
- SIFT 0.05
- EVE 0.21
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)