A14A (p.Ala14Ala) variant of PSEN1 (Presenilin-1)
A14A (p.Ala14Ala) in PSEN1 (Presenilin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
A14A (p.Ala14Ala) variant details
- p.Ala14Ala
- gnomAD 14-73148061-A-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.451
- CADD 12.90
- Population evidence available
- Structural context available
- Literature evidence available