C99R (p.Cys99Arg) variant of NPC2 (P61916)
C99R (p.Cys99Arg) in NPC2 (P61916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Niemann-Pick disease, type C2; Niemann-Pick disease, type C. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
C99R (p.Cys99Arg) variant details
- p.Cys99Arg
- rs80358264
- ClinGen CA342111
- ClinVar RCV000020646
- ClinVar RCV003398552
- Pathogenic
- Niemann-Pick disease, type C2; Niemann-Pick disease, type C
- Missense
- Variant Prioritization Score for Impact Estimate 0.859
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 29.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Niemann-Pick disease, type C2; Niemann-Pick disease, type C)
- EBI: Pathogenic (in NPC2)
- UniProt: Pathogenic (in NPC2)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Niemann-Pick type C disease: subcellular location and functional characterization of NPC2 proteins with naturally… (PMID 15937921)
- Cited in: Identification of HE1 as the second gene of Niemann-Pick C disease. (PMID 11125141)