L49P (p.Leu49Pro) variant of NPC2 (P61916)
L49P (p.Leu49Pro) in NPC2 (P61916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Niemann-Pick disease, type C2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
L49P (p.Leu49Pro) variant details
- p.Leu49Pro
- rs1310092921
- ClinGen CA390532723
- ClinVar RCV003088869
- TOPMed rs1310092921
- Uncertain significance
- Niemann-Pick disease, type C2
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- REVEL 0.84
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Niemann-Pick disease, type C2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)