S49A (p.Ser49Ala) variant of PSEN2 (Presenilin-2)
S49A (p.Ser49Ala) in PSEN2 (Presenilin-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
S49A (p.Ser49Ala) variant details
- p.Ser49Ala
- rs1420282492
- gnomAD 1-226883706-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.605
- CADD 25.60
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available
- Literature evidence available