Q23R (p.Gln23Arg) variant of NPC1 (O15118)
Q23R (p.Gln23Arg) in NPC1 (O15118) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
Q23R (p.Gln23Arg) variant details
- p.Gln23Arg
- gnomAD 18-23529703-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.107
- CADD 3.71
- Population evidence available
- Structural context available
- Literature evidence available