F23S (p.Phe23Ser) variant of NCSTN (Nicastrin)
F23S (p.Phe23Ser) in NCSTN (Nicastrin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
F23S (p.Phe23Ser) variant details
- p.Phe23Ser
- gnomAD 1-160343756-GT-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.133
- CADD 7.38
- Population evidence available
- Structural context available
- Literature evidence available