Y56C (p.Tyr56Cys) variant of NPC1 (O15118)
Y56C (p.Tyr56Cys) in NPC1 (O15118) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Niemann-Pick disease, type C1; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
Y56C (p.Tyr56Cys) variant details
- p.Tyr56Cys
- gnomAD rs1482926189
- Uncertain significance
- Niemann-Pick disease, type C1; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- REVEL 0.68
- CADD 24.80
- PolyPhen-2 0.62
- SIFT 0.09
- ClinVar: Uncertain significance (Niemann-Pick disease, type C1; Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available