A6A (p.Ala6Ala) variant of PSEN2 (Presenilin-2)
A6A (p.Ala6Ala) in PSEN2 (Presenilin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
A6A (p.Ala6Ala) variant details
- p.Ala6Ala
- rs763738488
- gnomAD 1-226881925-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.319
- CADD 12.80
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available
- Literature evidence available