A15V (p.Ala15Val) variant of IDUA (Alpha-L-iduronidase)
A15V (p.Ala15Val) 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 Mucopolysaccharidosis type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
A15V (p.Ala15Val) variant details
- p.Ala15Val
- rs886059749
- ClinGen CA10622073
- ClinVar RCV000403267
- Ensembl rs886059749
- Uncertain significance
- Mucopolysaccharidosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- CADD 6.86
- PolyPhen-2 0.01
- SIFT 0.51
- ClinVar: Uncertain significance (Mucopolysaccharidosis type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.9e-05)
- Structural context available
- Cited in: Mucopolysaccharidosis Type I. (PMID 20301341)