A12V (p.Ala12Val) variant of IDUA (Alpha-L-iduronidase)
A12V (p.Ala12Val) 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 provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
A12V (p.Ala12Val) variant details
- p.Ala12Val
- rs1009685278
- ClinGen CA91144655
- ClinVar RCV003131212
- TOPMed rs1009685278
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- CADD 3.95
- PolyPhen-2 0.01
- SIFT 0.90
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available