G1012C (p.Gly1012Cys) variant of NPC1 (O15118)
G1012C (p.Gly1012Cys) in NPC1 (O15118) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Niemann-Pick disease, type C1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
G1012C (p.Gly1012Cys) variant details
- p.Gly1012Cys
- rs1555632941
- ClinGen CA401792088
- ClinVar RCV000673563
- Ensembl rs1555632941
- Uncertain significance
- Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.844
- REVEL 0.89
- CADD 25.70
- PolyPhen-2 0.85
- SIFT 0.06
- ClinVar: Uncertain significance (Niemann-Pick disease, type C1)
- EBI: Variant of uncertain significance (in NPC1)
- UniProt: Uncertain significance (in NPC1)
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)