R615H (p.Arg615His) variant of NPC1 (O15118)
R615H (p.Arg615His) in NPC1 (O15118) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Niemann-Pick disease, type C1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
R615H (p.Arg615His) variant details
- p.Arg615His
- rs773351341
- ClinGen CA401772841
- ClinVar RCV001988681
- ExAC rs773351341
- Likely pathogenic
- Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- REVEL 0.75
- CADD 27.60
- PolyPhen-2 0.83
- SIFT 0.00
- ClinVar: Likely pathogenic (Niemann-Pick disease, type C1)
- EBI: Likely pathogenic (in NPC1)
- UniProt: Likely pathogenic (in NPC1)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)