A14G (p.Ala14Gly) variant of PSEN1 (Presenilin-1)
A14G (p.Ala14Gly) in PSEN1 (Presenilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
A14G (p.Ala14Gly) variant details
- p.Ala14Gly
- gnomAD 14-73160031-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- CADD 10.00
- Population evidence available
- Structural context available
- Literature evidence available