S43Q (p.Ser43Gln) variant of PSEN1 (Presenilin-1)
S43Q (p.Ser43Gln) in PSEN1 (Presenilin-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
S43Q (p.Ser43Gln) variant details
- p.Ser43Gln
- rs1566629201
- gnomAD 14-73170824-A-AAC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.158
- CADD 10.90
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available
- Literature evidence available