G37G (p.Gly37Gly) variant of PSEN2 (Presenilin-2)
G37G (p.Gly37Gly) in PSEN2 (Presenilin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
G37G (p.Gly37Gly) variant details
- p.Gly37Gly
- rs139309459
- gnomAD 1-226882018-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.179
- CADD 3.71
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available
- Literature evidence available