E54Q (p.Glu54Gln) variant of PSEN2 (Presenilin-2)
E54Q (p.Glu54Gln) in PSEN2 (Presenilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
E54Q (p.Glu54Gln) variant details
- p.Glu54Gln
- gnomAD 1-226883723-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.36
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.30
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available