S72Y (p.Ser72Tyr) variant of NPC1 (O15118)
S72Y (p.Ser72Tyr) in NPC1 (O15118) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
S72Y (p.Ser72Tyr) variant details
- p.Ser72Tyr
- gnomAD 18-23522894-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.166
- CADD 2.38
- Population evidence available
- Structural context available
- Literature evidence available