N1156I (p.Asn1156Ile) variant of NPC1 (O15118)
N1156I (p.Asn1156Ile) 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 C1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
N1156I (p.Asn1156Ile) variant details
- p.Asn1156Ile
- rs28942105
- ClinGen CA401791138
- ClinVar RCV000668091
- UniProt VAR 043290
- Pathogenic/Likely pathogenic
- Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- REVEL 0.86
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Niemann-Pick disease, type C1)
- EBI: Pathogenic (in NPC1)
- UniProt: Pathogenic (in NPC1)
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype… (PMID 16098014)
- Cited in: NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C. (PMID 10480349)