S734T (p.Ser734Thr) variant of NPC1 (O15118)
S734T (p.Ser734Thr) in NPC1 (O15118) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Niemann-Pick disease, type C1; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
S734T (p.Ser734Thr) variant details
- p.Ser734Thr
- rs757475924
- ClinGen CA401770819
- ClinVar RCV003606698
- ClinVar RCV004527004
- Conflicting interpretations
- Niemann-Pick disease, type C1; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- REVEL 0.65
- CADD 23.90
- PolyPhen-2 0.54
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (Niemann-Pick disease, type C1; not specified)
- EBI: Likely pathogenic (in NPC1)
- UniProt: Likely pathogenic (in NPC1)
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)