P691Q (p.Pro691Gln) variant of NPC1 (O15118)
P691Q (p.Pro691Gln) in NPC1 (O15118) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Sphingomyelin/cholesterol lipidosis; Niemann-Pick disease, type C; Niemann-Pick. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
P691Q (p.Pro691Gln) variant details
- p.Pro691Gln
- rs1555634422
- ClinGen CA401771365
- ClinVar RCV001267686
- ClinVar RCV003230656
- Likely pathogenic
- Sphingomyelin/cholesterol lipidosis; Niemann-Pick disease, type C; Niemann-Pick
- Missense
- Variant Prioritization Score for Impact Estimate 0.879
- REVEL 0.94
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Sphingomyelin/cholesterol lipidosis; Niemann-Pick disease, type)
- EBI: Pathogenic (in NPC1)
- UniProt: Pathogenic (in NPC1)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)
- Cited in: Acid Sphingomyelinase Deficiency. (PMID 20301544)