S14G (p.Ser14Gly) variant of NCSTN (Nicastrin)
S14G (p.Ser14Gly) 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 0.27 / 1. The record also includes population frequency data and structural context.
S14G (p.Ser14Gly) variant details
- p.Ser14Gly
- rs1362905608
- ClinGen CA343274413
- ClinVar RCV003837143
- TOPMed rs1362905608
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.05
- CADD 21.20
- PolyPhen-2 0.00
- SIFT 0.19
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available