S72S (p.Ser72Ser) variant of NPC1 (O15118)
S72S (p.Ser72Ser) in NPC1 (O15118) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
S72S (p.Ser72Ser) variant details
- p.Ser72Ser
- gnomAD 18-23522893-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.342
- CADD 0.34
- Population evidence available
- Structural context available
- Literature evidence available