S652L (p.Ser652Leu) variant of NPC1 (O15118)
S652L (p.Ser652Leu) in NPC1 (O15118) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Niemann-Pick disease, type C1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
S652L (p.Ser652Leu) variant details
- p.Ser652Leu
- rs765652543
- ClinGen CA8913253
- NCI-TCGA Cosmic COSV5257
- ClinVar RCV002933484
- Uncertain significance
- Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.888
- REVEL 0.94
- CADD 31.00
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Uncertain significance (Niemann-Pick disease, type C1)
- EBI: Likely pathogenic (in NPC1)
- UniProt: Likely pathogenic (in NPC1)
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)