Q36R (p.Gln36Arg) variant of PSEN2 (Presenilin-2)
Q36R (p.Gln36Arg) in PSEN2 (Presenilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
Q36R (p.Gln36Arg) variant details
- p.Gln36Arg
- gnomAD rs1389549012
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.23
- CADD 1.02
- PolyPhen-2 0.00
- SIFT 0.45
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available