S8F (p.Ser8Phe) variant of NCSTN (Nicastrin)
S8F (p.Ser8Phe) in NCSTN (Nicastrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes structural context.
S8F (p.Ser8Phe) variant details
- p.Ser8Phe
- rs770476356
- ClinGen CA343274356
- NCI-TCGA Cosmic COSV9961
- ClinVar RCV001946364
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.14
- MetaSVM -0.91
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available