D948N (p.Asp948Asn) variant of NPC1 (O15118)
D948N (p.Asp948Asn) in NPC1 (O15118) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Niemann-Pick disease, type C; Niemann-Pick disease, type C1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
D948N (p.Asp948Asn) variant details
- p.Asp948Asn
- rs1261939149
- ClinGen CA401792513
- ClinVar RCV000668346
- ClinVar RCV003479193
- Pathogenic/Likely pathogenic
- Niemann-Pick disease, type C; Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.728
- REVEL 0.69
- CADD 25.00
- PolyPhen-2 0.92
- SIFT 0.06
- ClinVar: Pathogenic/Likely pathogenic (Niemann-Pick disease, type C; Niemann-Pick disease, type C1)
- EBI: Pathogenic (in NPC1)
- UniProt: Pathogenic (in NPC1)
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain. (PMID 10521290)
- Cited in: Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific… (PMID 11349231)