T27T (p.Thr27Thr) variant of PSEN2 (Presenilin-2)
T27T (p.Thr27Thr) 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.
T27T (p.Thr27Thr) variant details
- p.Thr27Thr
- rs144696679
- gnomAD 1-226881988-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0812
- CADD 0.08
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- Literature evidence available