T57P (p.Thr57Pro) variant of NCSTN (Nicastrin)
T57P (p.Thr57Pro) in NCSTN (Nicastrin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
T57P (p.Thr57Pro) variant details
- p.Thr57Pro
- gnomAD 1-160343777-AC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.143
- CADD 8.77
- Population evidence available
- Structural context available
- Literature evidence available