G6A (p.Gly6Ala) variant of NCSTN (Nicastrin)
G6A (p.Gly6Ala) in NCSTN (Nicastrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
G6A (p.Gly6Ala) variant details
- p.Gly6Ala
- TOPMed rs1243549103
- gnomAD rs1243549103
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 21.80
- PolyPhen-2 0.04
- SIFT 0.04
- Most common in the HGDP:ADYGEI population (allele frequency 0.088)
- Structural context available