P691L (p.Pro691Leu) variant of NPC1 (O15118)
P691L (p.Pro691Leu) in NPC1 (O15118) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Niemann-Pick disease, type C1. 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.
P691L (p.Pro691Leu) variant details
- p.Pro691Leu
- rs1555634422
- ClinGen CA401771363
- ClinVar RCV000668135
- ClinVar RCV003128721
- Pathogenic/Likely pathogenic
- not provided; Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.881
- REVEL 0.94
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Niemann-Pick disease, type C1)
- EBI: Pathogenic (in NPC1)
- UniProt: Pathogenic (in NPC1)
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- 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: NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C. (PMID 10480349)