S67P (p.Ser67Pro) variant of NPC2 (P61916)
S67P (p.Ser67Pro) in NPC2 (P61916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Niemann-Pick disease, type C2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
S67P (p.Ser67Pro) variant details
- p.Ser67Pro
- rs11694
- ClinGen CA340793
- ClinVar RCV000009003
- UniProt VAR 015849
- Pathogenic
- Niemann-Pick disease, type C2
- Missense
- Variant Prioritization Score for Impact Estimate 0.891
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.80
- MetaSVM 0.81
- PolyPhen-2 1.00
- SIFT 0.10
- ClinVar: Pathogenic (Niemann-Pick disease, type C2)
- EBI: Pathogenic (in NPC2)
- UniProt: Pathogenic (in NPC2)
- Structural context available
- Cited in: Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group. (PMID 11567215)
- Cited in: Niemann-Pick type C disease: subcellular location and functional characterization of NPC2 proteins with naturally… (PMID 15937921)