V20I (p.Val20Ile) variant of IDS (Iduronate 2-sulfatase)
V20I (p.Val20Ile) in IDS (Iduronate 2-sulfatase) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
V20I (p.Val20Ile) variant details
- p.Val20Ile
- ESP rs11549010
- ExAC rs11549010
- TOPMed rs11549010
- gnomAD rs11549010
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.118
- REVEL 0.16
- CADD 0.11
- PolyPhen-2 0.00
- SIFT 0.51
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available