N64I (p.Asn64Ile) variant of NPC2 (P61916)
N64I (p.Asn64Ile) 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 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
N64I (p.Asn64Ile) variant details
- p.Asn64Ile
- rs1391222276
- ClinGen CA390532608
- ClinVar RCV001970713
- TOPMed rs1391222276
- Uncertain significance
- Niemann-Pick disease, type C2
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.27
- ESM-1b 1.00
- AlphaMissense 0.27
- CADD 13.10
- PolyPhen-2 0.23
- SIFT 0.06
- ClinVar: Uncertain significance (Niemann-Pick disease, type C2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)