S8P (p.Ser8Pro) variant of NCSTN (Nicastrin)
S8P (p.Ser8Pro) in NCSTN (Nicastrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
S8P (p.Ser8Pro) variant details
- p.Ser8Pro
- ExAC rs749209748
- gnomAD rs749209748
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 16.70
- PolyPhen-2 0.09
- SIFT 0.19
- Most common in the HGDP:XIBO population (allele frequency 0.056)
- Structural context available