N103K (p.Asn103Lys) variant of NPC1 (O15118)
N103K (p.Asn103Lys) in NPC1 (O15118) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes structural context.
N103K (p.Asn103Lys) variant details
- p.Asn103Lys
- rs2511341616
- ClinGen CA401785877
- ClinVar RCV003312409
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available