T57T (p.Thr57Thr) variant of NCSTN (Nicastrin)
T57T (p.Thr57Thr) in NCSTN (Nicastrin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
T57T (p.Thr57Thr) variant details
- p.Thr57Thr
- gnomAD 1-160343801-A-C
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.292
- CADD 18.70
- Population evidence available
- Structural context available
- Literature evidence available