L11V (p.Leu11Val) variant of IDUA (Alpha-L-iduronidase)
L11V (p.Leu11Val) 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 Inborn genetic diseases; not provided; Mucopolysaccharidosis type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
L11V (p.Leu11Val) variant details
- p.Leu11Val
- rs1423609884
- ClinGen CA355945293
- ClinVar RCV001890911
- ClinVar RCV005054381
- Uncertain significance
- Inborn genetic diseases; not provided; Mucopolysaccharidosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- CADD 15.40
- PolyPhen-2 0.42
- SIFT 0.03
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; Mucopolysaccharidosis typ)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- 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)