N70Y (p.Asn70Tyr) variant of NPC1 (O15118)
N70Y (p.Asn70Tyr) 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 0.56 / 1. The record also includes published literature and structural context.
N70Y (p.Asn70Tyr) variant details
- p.Asn70Tyr
- rs2145544807
- ClinGen CA401786520
- ClinVar RCV001866541
- Ensembl rs2145544807
- Uncertain significance
- Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- AlphaMissense 0.20
- MetaLR 0.63
- MetaSVM 0.22
- PolyPhen-2 0.45
- SIFT 0.01
- EVE 0.47
- ClinVar: Uncertain significance (Niemann-Pick disease, type C1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)