S734I (p.Ser734Ile) variant of NPC1 (O15118)
S734I (p.Ser734Ile) 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; not provided; Niemann-Pick disease, type C1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
S734I (p.Ser734Ile) variant details
- p.Ser734Ile
- rs757475924
- ClinGen CA8913187
- ClinVar RCV000414597
- ClinVar RCV000667438
- Pathogenic/Likely pathogenic
- Niemann-Pick disease, type C; not provided; Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- REVEL 0.88
- CADD 25.20
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Niemann-Pick disease, type C; not provided; Niemann-Pick disease)
- EBI: Pathogenic (in NPC1)
- UniProt: Pathogenic (in NPC1)
- Most common in the Latino/Admixed American population (allele frequency 0.0014)
- Structural context available
- Cited in: Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and… (PMID 12955717)
- Cited in: NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C. (PMID 10480349)