L104I (p.Leu104Ile) variant of NPC1 (O15118)
L104I (p.Leu104Ile) 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 0.53 / 1. The record also includes published literature and structural context.
L104I (p.Leu104Ile) variant details
- p.Leu104Ile
- rs2145527400
- ClinGen CA401785875
- ClinVar RCV001991749
- Ensembl rs2145527400
- Uncertain significance
- Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- AlphaMissense 0.22
- MetaLR 0.70
- MetaSVM 0.24
- PolyPhen-2 0.20
- SIFT 0.02
- EVE 0.25
- 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)