G1162A (p.Gly1162Ala) variant of NPC1 (O15118)
G1162A (p.Gly1162Ala) in NPC1 (O15118) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Niemann-Pick disease, type C. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
G1162A (p.Gly1162Ala) variant details
- p.Gly1162Ala
- rs1194990534
- ClinGen CA401791084
- ClinVar RCV002271760
- TOPMed rs1194990534
- Likely pathogenic
- Niemann-Pick disease, type C
- Missense
- Variant Prioritization Score for Impact Estimate 0.979
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.99
- ClinVar: Likely pathogenic (Niemann-Pick disease, type C)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)