N38K (p.Asn38Lys) variant of IDS (Iduronate 2-sulfatase)
N38K (p.Asn38Lys) 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 0.55 / 1. The record also includes population frequency data and structural context.
N38K (p.Asn38Lys) variant details
- p.Asn38Lys
- ESP rs149512799
- ExAC rs149512799
- TOPMed rs149512799
- gnomAD rs149512799
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- REVEL 0.80
- CADD 18.30
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available