W1145R (p.Trp1145Arg) variant of NPC1 (O15118)
W1145R (p.Trp1145Arg) in NPC1 (O15118) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Niemann-Pick disease, type C1; Niemann-Pick disease, type C. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
W1145R (p.Trp1145Arg) variant details
- p.Trp1145Arg
- rs2145350224
- ClinGen CA401791208
- ClinVar RCV002015000
- ClinVar RCV006458861
- Likely pathogenic
- Niemann-Pick disease, type C1; Niemann-Pick disease, type C
- Missense
- Variant Prioritization Score for Impact Estimate 0.965
- AlphaMissense 0.97
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.96
- ClinVar: Likely pathogenic (Niemann-Pick disease, type C1; Niemann-Pick disease, type C)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)