L73F (p.Leu73Phe) variant of NPC1 (O15118)
L73F (p.Leu73Phe) 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 0.35 / 1. The record also includes published literature and structural context.
L73F (p.Leu73Phe) variant details
- p.Leu73Phe
- rs2145544726
- ClinGen CA401786485
- ClinVar RCV003012280
- Uncertain significance
- Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- AlphaMissense 0.09
- MetaLR 0.23
- MetaSVM -0.80
- PolyPhen-2 0.00
- SIFT 1.00
- EVE 0.12
- 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)