R615C (p.Arg615Cys) variant of NPC1 (O15118)
R615C (p.Arg615Cys) 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; Inborn genetic diseases; Niemann-Pick disease, typ. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
R615C (p.Arg615Cys) variant details
- p.Arg615Cys
- rs745777805
- ClinGen CA8913361
- NCI-TCGA Cosmic COSV9934
- ClinVar RCV000685980
- Pathogenic/Likely pathogenic
- Niemann-Pick disease, type C; Inborn genetic diseases; Niemann-Pick disease, typ
- Missense
- Variant Prioritization Score for Impact Estimate 0.829
- REVEL 0.83
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Niemann-Pick disease, type C; Inborn genetic diseases; Niemann-P)
- EBI: Pathogenic (in NPC1)
- UniProt: Pathogenic (in NPC1)
- Most common in the Non-Finnish European population (allele frequency 8e-05)
- 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: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)