T18T (p.Thr18Thr) variant of PSEN2 (Presenilin-2)
T18T (p.Thr18Thr) in PSEN2 (Presenilin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
T18T (p.Thr18Thr) variant details
- p.Thr18Thr
- rs201018913
- gnomAD 1-226881961-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0823
- CADD 0.23
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available