R33Q (p.Arg33Gln) variant of PSEN1 (Presenilin-1)
R33Q (p.Arg33Gln) in PSEN1 (Presenilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
R33Q (p.Arg33Gln) variant details
- p.Arg33Gln
- rs768786711
- gnomAD 14-73160013-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.105
- CADD 3.49
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available