P1007L (p.Pro1007Leu) variant of NPC1 (O15118)
P1007L (p.Pro1007Leu) in NPC1 (O15118) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic 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.
P1007L (p.Pro1007Leu) variant details
- p.Pro1007Leu
- rs764789542
- ClinGen CA8912895
- ClinVar RCV001250198
- ExAC rs764789542
- Pathogenic
- Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.892
- REVEL 0.95
- CADD 30.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Niemann-Pick disease, type C1)
- EBI: Pathogenic (in NPC1)
- UniProt: Pathogenic (in NPC1)
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)