S8C (p.Ser8Cys) variant of NCSTN (Nicastrin)
S8C (p.Ser8Cys) in NCSTN (Nicastrin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
S8C (p.Ser8Cys) variant details
- p.Ser8Cys
- ExAC rs770476356
- gnomAD rs770476356
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.14
- MetaSVM -0.91
- CADD 12.60
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.15)
- Structural context available