Q46R (p.Gln46Arg) variant of PSEN2 (Presenilin-2)
Q46R (p.Gln46Arg) in PSEN2 (Presenilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
Q46R (p.Gln46Arg) variant details
- p.Gln46Arg
- gnomAD 1-226882044-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.47
- CADD 21.80
- PolyPhen-2 0.00
- SIFT 0.73
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- Literature evidence available