G992A (p.Gly992Ala) variant of NPC1 (O15118)
G992A (p.Gly992Ala) 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; Niemann-Pick disease, type C1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
G992A (p.Gly992Ala) variant details
- p.Gly992Ala
- rs757534240
- ClinGen CA8912900
- ClinVar RCV003050499
- ClinVar RCV003230762
- Pathogenic/Likely pathogenic
- Niemann-Pick disease, type C; Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- AlphaMissense 0.31
- MetaLR 0.71
- MetaSVM 0.21
- PolyPhen-2 0.02
- SIFT 0.34
- EVE 0.37
- ClinVar: Pathogenic/Likely pathogenic (Niemann-Pick disease, type C; Niemann-Pick disease, type C1)
- EBI: Pathogenic (in NPC1)
- UniProt: Pathogenic (in NPC1)
- Population evidence available
- 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)