Q119E (p.Gln119Glu) variant of NPC1 (O15118)
Q119E (p.Gln119Glu) in NPC1 (O15118) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
Q119E (p.Gln119Glu) variant details
- p.Gln119Glu
- gnomAD rs1294187402
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.24
- CADD 15.30
- PolyPhen-2 0.00
- SIFT 0.65
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available