R17G (p.Arg17Gly) variant of PSEN2 (Presenilin-2)
R17G (p.Arg17Gly) in PSEN2 (Presenilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
R17G (p.Arg17Gly) variant details
- p.Arg17Gly
- gnomAD 1-226881956-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.64
- CADD 23.30
- PolyPhen-2 0.21
- SIFT 0.05
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available
- Literature evidence available