T44T (p.Thr44Thr) variant of PSEN2 (Presenilin-2)
T44T (p.Thr44Thr) in PSEN2 (Presenilin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
T44T (p.Thr44Thr) variant details
- p.Thr44Thr
- rs143227762
- gnomAD 1-226882039-T-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.086
- CADD 0.75
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available