G28T (p.Gly28Thr) variant of NPC2 (P61916)
G28T (p.Gly28Thr) in NPC2 (P61916) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
G28T (p.Gly28Thr) variant details
- p.Gly28Thr
- rs483352893
- ClinGen CA7268220
- ClinVar RCV002613296
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- MetaLR 0.84
- MetaSVM 0.83
- PolyPhen-2 0.98
- SIFT 0.04
- MutPred 0.94
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)