C93F (p.Cys93Phe) variant of NPC2 (P61916)
C93F (p.Cys93Phe) in NPC2 (P61916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Niemann-Pick disease, type C2; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
C93F (p.Cys93Phe) variant details
- p.Cys93Phe
- rs143960270
- ClinGen CA7268153
- ClinVar RCV001580747
- ClinVar RCV005237922
- Conflicting interpretations
- Niemann-Pick disease, type C2; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.909
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Niemann-Pick disease, type C2; not specified)
- EBI: Pathogenic (in NPC2)
- UniProt: Pathogenic (in NPC2)
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.7e-05)
- Structural context available
- Cited in: Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and… (PMID 12955717)
- Cited in: Niemann-Pick type C disease: subcellular location and functional characterization of NPC2 proteins with naturally… (PMID 15937921)