D57N (p.Asp57Asn) variant of NPC1 (O15118)
D57N (p.Asp57Asn) 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 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
D57N (p.Asp57Asn) variant details
- p.Asp57Asn
- rs745994349
- ClinGen CA8913816
- ClinVar RCV003107001
- ExAC rs745994349
- Uncertain significance
- Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.27
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.11
- ClinVar: Uncertain significance (Niemann-Pick disease, type C1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)