V39I (p.Val39Ile) variant of IDS (Iduronate 2-sulfatase)
V39I (p.Val39Ile) 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 provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
V39I (p.Val39Ile) variant details
- p.Val39Ile
- rs931984538
- ClinVar RCV004593515
- TOPMed rs931984538
- gnomAD rs931984538
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.40
- CADD 12.20
- PolyPhen-2 0.24
- SIFT 0.19
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available