G37R (p.Gly37Arg) variant of PSEN2 (Presenilin-2)
G37R (p.Gly37Arg) in PSEN2 (Presenilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
G37R (p.Gly37Arg) variant details
- p.Gly37Arg
- Ensembl rs1558143495
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.35
- CADD 15.00
- PolyPhen-2 0.00
- SIFT 0.58
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available