A30V (p.Ala30Val) variant of IDS (Iduronate 2-sulfatase)
A30V (p.Ala30Val) in IDS (Iduronate 2-sulfatase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
A30V (p.Ala30Val) variant details
- p.Ala30Val
- gnomAD rs2089514573
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.29
- CADD 8.67
- PolyPhen-2 0.00
- SIFT 0.51
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available