N106D (p.Asn106Asp) variant of NPC1 (O15118)
N106D (p.Asn106Asp) 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 0.55 / 1. The record also includes published literature and structural context.
N106D (p.Asn106Asp) variant details
- p.Asn106Asp
- rs2145527323
- ClinGen CA401785847
- ClinVar RCV001989470
- Ensembl rs2145527323
- Uncertain significance
- Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- AlphaMissense 0.23
- MetaLR 0.71
- MetaSVM 0.22
- PolyPhen-2 0.02
- SIFT 0.53
- EVE 0.27
- 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)