G5A (p.Gly5Ala) variant of NCSTN (Nicastrin)
G5A (p.Gly5Ala) 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 0.18 / 1. The record also includes population frequency data and structural context.
G5A (p.Gly5Ala) variant details
- p.Gly5Ala
- 1000Genomes rs528352370
- ExAC rs528352370
- TOPMed rs528352370
- gnomAD rs528352370
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 7.32
- PolyPhen-2 0.00
- SIFT 0.53
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YORUBA population (allele frequency 0.048)
- Structural context available