F21L (p.Phe21Leu) variant of NPC1 (O15118)
F21L (p.Phe21Leu) 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 0.42 / 1. The record also includes published literature and structural context.
F21L (p.Phe21Leu) variant details
- p.Phe21Leu
- rs2145552491
- ClinGen CA402041438
- ClinVar RCV001931355
- Ensembl rs2145552491
- Uncertain significance
- Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- AlphaMissense 0.33
- MetaLR 0.49
- MetaSVM -0.61
- PolyPhen-2 0.00
- SIFT 0.63
- EVE 0.06
- 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)