T1036M (p.Thr1036Met) variant of NPC1 (O15118)
T1036M (p.Thr1036Met) in NPC1 (O15118) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Niemann-Pick disease, type C; Niemann-Pick disease, type C1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
T1036M (p.Thr1036Met) variant details
- p.Thr1036Met
- rs28942104
- ClinGen CA242024
- ClinVar RCV000003092
- ClinVar RCV000176149
- Conflicting interpretations
- not provided; Niemann-Pick disease, type C; Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- REVEL 0.87
- CADD 26.60
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Niemann-Pick disease, type C; Niemann-Pick disease)
- EBI: Pathogenic (in NPC1)
- UniProt: Pathogenic (in NPC1)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Niemann-Pick C disease: use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2… (PMID 16126423)
- Cited in: Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis. (PMID 9211849)