G67G (p.Gly67Gly) variant of PSEN2 (Presenilin-2)
G67G (p.Gly67Gly) in PSEN2 (Presenilin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
G67G (p.Gly67Gly) variant details
- p.Gly67Gly
- rs1661152624
- gnomAD 1-226883764-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.463
- CADD 2.05
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- Literature evidence available