P49L (p.Pro49Leu) variant of IDS (Iduronate 2-sulfatase)
P49L (p.Pro49Leu) in IDS (Iduronate 2-sulfatase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
P49L (p.Pro49Leu) variant details
- p.Pro49Leu
- TOPMed rs1335589314
- gnomAD rs1335589314
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- REVEL 0.84
- CADD 24.90
- PolyPhen-2 0.45
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available