D85E (p.Asp85Glu) variant of NPC1 (O15118)
D85E (p.Asp85Glu) 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.
D85E (p.Asp85Glu) variant details
- p.Asp85Glu
- rs2059212616
- ClinGen CA401786402
- ClinVar RCV002017718
- TOPMed rs2059212616
- Uncertain significance
- Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.20
- CADD 10.50
- PolyPhen-2 0.00
- SIFT 0.95
- 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)