C16Y (p.Cys16Tyr) variant of NPC1 (O15118)
C16Y (p.Cys16Tyr) 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 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
C16Y (p.Cys16Tyr) variant details
- p.Cys16Tyr
- rs1407142143
- ClinGen CA402041486
- ClinVar RCV002004476
- gnomAD rs1407142143
- Uncertain significance
- Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.36
- CADD 22.40
- PolyPhen-2 0.47
- SIFT 0.01
- ClinVar: Uncertain significance (Niemann-Pick disease, type C1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 8.4e-05)
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)