Q66L (p.Gln66Leu) variant of NPC2 (P61916)
Q66L (p.Gln66Leu) in NPC2 (P61916) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of NPC2-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
Q66L (p.Gln66Leu) variant details
- p.Gln66Leu
- TOPMed rs2086689798
- Uncertain significance
- NPC2-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 8.05
- PolyPhen-2 0.08
- SIFT 0.12
- ClinVar: Uncertain significance (NPC2-related disorder)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available