G36R (p.Gly36Arg) variant of NPC1 (O15118)
G36R (p.Gly36Arg) 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 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
G36R (p.Gly36Arg) variant details
- p.Gly36Arg
- rs2059232891
- ClinGen CA402041339
- ClinVar RCV001874839
- TOPMed rs2059232891
- Uncertain significance
- Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- REVEL 0.45
- CADD 22.40
- PolyPhen-2 0.21
- SIFT 0.37
- ClinVar: Uncertain significance (Niemann-Pick disease, type C1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)