N1156T (p.Asn1156Thr) variant of NPC1 (O15118)
N1156T (p.Asn1156Thr) in NPC1 (O15118) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Niemann-Pick disease, type C1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
N1156T (p.Asn1156Thr) variant details
- p.Asn1156Thr
- rs28942105
- ClinGen CA401791139
- ClinVar RCV003606862
- ClinVar RCV005407238
- Conflicting interpretations
- not specified; Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.772
- REVEL 0.85
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; Niemann-Pick disease, type C1)
- EBI: Likely pathogenic (in NPC1)
- UniProt: Likely pathogenic (in NPC1)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)