A558T (p.Ala558Thr) variant of NPC1 (O15118)
A558T (p.Ala558Thr) 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
A558T (p.Ala558Thr) variant details
- p.Ala558Thr
- rs201156397
- ClinGen CA8913395
- ClinVar RCV002038330
- ClinVar RCV006262340
- Pathogenic/Likely pathogenic
- Niemann-Pick disease, type C; Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.842
- REVEL 0.94
- CADD 28.80
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Niemann-Pick disease, type C; Niemann-Pick disease, type C1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)