I33F (p.Ile33Phe) variant of NPC1 (O15118)
I33F (p.Ile33Phe) 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 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
I33F (p.Ile33Phe) variant details
- p.Ile33Phe
- rs1244447626
- ClinGen CA402041357
- ClinVar RCV001955246
- TOPMed rs1244447626
- Uncertain significance
- Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.28
- CADD 13.70
- PolyPhen-2 0.00
- SIFT 0.72
- ClinVar: Uncertain significance (Niemann-Pick disease, type C1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)