G1240R (p.Gly1240Arg) variant of NPC1 (O15118)
G1240R (p.Gly1240Arg) 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; Niemann-Pick disease, type C. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
G1240R (p.Gly1240Arg) variant details
- p.Gly1240Arg
- rs745892286
- ClinGen CA8912679
- ClinVar RCV003236400
- UniProt VAR 043301
- Pathogenic
- Niemann-Pick disease, type C1; Niemann-Pick disease, type C
- Missense
- Variant Prioritization Score for Impact Estimate 0.807
- REVEL 0.90
- CADD 25.10
- 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 Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Niemann-Pick C disease: use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2… (PMID 16126423)
- Cited in: NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C. (PMID 10480349)