Y28C (p.Tyr28Cys) variant of NPC1 (O15118)
Y28C (p.Tyr28Cys) in NPC1 (O15118) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Niemann-Pick disease, type C1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
Y28C (p.Tyr28Cys) variant details
- p.Tyr28Cys
- rs1232191827
- ClinGen CA402041389
- ClinVar RCV002266261
- ClinVar RCV003101493
- Uncertain significance
- not specified; Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- REVEL 0.92
- CADD 26.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not specified; Niemann-Pick disease, type C1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)