A6A (p.Ala6Ala) variant of PSEN1 (Presenilin-1)
A6A (p.Ala6Ala) in PSEN1 (Presenilin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
A6A (p.Ala6Ala) variant details
- p.Ala6Ala
- rs759499223
- gnomAD 14-73148037-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.155
- CADD 10.50
- Population evidence available
- Structural context available
- Literature evidence available