F101C (p.Phe101Cys) variant of NPC1 (O15118)
F101C (p.Phe101Cys) in NPC1 (O15118) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Niemann-Pick disease, type C; not provided; Niemann-Pick disease, type C1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
F101C (p.Phe101Cys) variant details
- p.Phe101Cys
- rs548191894
- ClinGen CA8913762
- ClinVar RCV000597242
- ClinVar RCV001377830
- Conflicting interpretations
- Niemann-Pick disease, type C; not provided; Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.708
- REVEL 0.82
- CADD 27.10
- PolyPhen-2 0.80
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Niemann-Pick disease, type C; not provided; Niemann-Pick disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 0.001)
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)