G56A (p.Gly56Ala) variant of PSEN2 (Presenilin-2)
G56A (p.Gly56Ala) in PSEN2 (Presenilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
G56A (p.Gly56Ala) variant details
- p.Gly56Ala
- gnomAD 1-226883730-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.37
- CADD 6.84
- PolyPhen-2 0.00
- SIFT 0.48
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available