Q32R (p.Gln32Arg) variant of PSEN2 (Presenilin-2)
Q32R (p.Gln32Arg) in PSEN2 (Presenilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
Q32R (p.Gln32Arg) variant details
- p.Gln32Arg
- gnomAD rs1458154730
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.43
- CADD 17.20
- PolyPhen-2 0.00
- SIFT 0.55
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available