P49L (p.Pro49Leu) variant of PSEN1 (Presenilin-1)
P49L (p.Pro49Leu) in PSEN1 (Presenilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
P49L (p.Pro49Leu) variant details
- p.Pro49Leu
- gnomAD 14-73170855-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- REVEL 0.46
- CADD 22.10
- PolyPhen-2 0.02
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available
- Literature evidence available