G46V (p.Gly46Val) variant of NPC1 (O15118)
G46V (p.Gly46Val) in NPC1 (O15118) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
G46V (p.Gly46Val) variant details
- p.Gly46Val
- TOPMed rs1425737401
- gnomAD rs1425737401
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.728
- REVEL 0.76
- CADD 26.00
- PolyPhen-2 0.90
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available