G32R (p.Gly32Arg) variant of NPC2 (P61916)
G32R (p.Gly32Arg) in NPC2 (P61916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Niemann-Pick disease, type C2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
G32R (p.Gly32Arg) variant details
- p.Gly32Arg
- rs2506107358
- ClinGen CA390532842
- ClinVar RCV003621381
- Uncertain significance
- Niemann-Pick disease, type C2
- Missense
- Variant Prioritization Score for Impact Estimate 0.817
- REVEL 0.78
- ESM-1b 1.00
- AlphaMissense 0.97
- CADD 29.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Niemann-Pick disease, type C2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)