G34A (p.Gly34Ala) variant of PSEN2 (Presenilin-2)
G34A (p.Gly34Ala) in PSEN2 (Presenilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
G34A (p.Gly34Ala) variant details
- p.Gly34Ala
- TOPMed rs1439853463
- gnomAD rs1439853463
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.35
- CADD 10.50
- PolyPhen-2 0.00
- SIFT 0.35
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available