N198K (p.Asn198Lys) variant of IMPDH1 (P20839)
N198K (p.Asn198Lys) in IMPDH1 (P20839) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The record also includes published literature and structural context.
N198K (p.Asn198Lys) variant details
- p.Asn198Lys
- UniProt VAR 065618
- Pathogenic
- not provided
- Missense
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in LCA11)
- UniProt: Pathogenic (in LCA11)
- Structural context available
- Cited in: Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber… (PMID 16384941)