A926T (p.Ala926Thr) variant of NPC1 (O15118)
A926T (p.Ala926Thr) in NPC1 (O15118) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; Niemann-Pick disease, type C; Niemann-Pick disease, typ. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
A926T (p.Ala926Thr) variant details
- p.Ala926Thr
- rs564631426
- ClinGen CA8912981
- ClinVar RCV001265934
- ClinVar RCV001880105
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; Niemann-Pick disease, type C; Niemann-Pick disease, typ
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- REVEL 0.86
- CADD 26.30
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; Niemann-Pick disease, type C; Niemann-P)
- EBI: Pathogenic (in NPC1)
- UniProt: Pathogenic (in NPC1)
- Most common in the 1KG:KHV population (allele frequency 0.005)
- 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: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)