Q15Q (p.Gln15Gln) variant of PSEN1 (Presenilin-1)
Q15Q (p.Gln15Gln) in PSEN1 (Presenilin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
Q15Q (p.Gln15Gln) variant details
- p.Gln15Gln
- gnomAD 14-73148064-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.646
- CADD 11.90
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- Literature evidence available