A14V (p.Ala14Val) variant of PSEN1 (Presenilin-1)
A14V (p.Ala14Val) in PSEN1 (Presenilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
A14V (p.Ala14Val) variant details
- p.Ala14Val
- gnomAD 14-73160022-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- CADD 2.31
- Population evidence available
- Structural context available
- Literature evidence available