A14T (p.Ala14Thr) variant of PSEN1 (Presenilin-1)
A14T (p.Ala14Thr) in PSEN1 (Presenilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
A14T (p.Ala14Thr) variant details
- p.Ala14Thr
- rs569431165
- gnomAD 14-73160021-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0938
- CADD 1.86
- Population evidence available
- Structural context available
- Literature evidence available