S51A (p.Ser51Ala) variant of PSEN1 (Presenilin-1)
S51A (p.Ser51Ala) in PSEN1 (Presenilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
S51A (p.Ser51Ala) variant details
- p.Ser51Ala
- TOPMed rs1897867942
- gnomAD rs1897867942
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- REVEL 0.52
- CADD 20.30
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available