G37D (p.Gly37Asp) variant of PSEN2 (Presenilin-2)
G37D (p.Gly37Asp) in PSEN2 (Presenilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
G37D (p.Gly37Asp) variant details
- p.Gly37Asp
- cosmic curated COSV60917
- TOPMed rs1231154581
- gnomAD rs1231154581
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.33
- CADD 7.98
- PolyPhen-2 0.00
- SIFT 0.60
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available