T3T (p.Thr3Thr) variant of PSEN2 (Presenilin-2)
T3T (p.Thr3Thr) in PSEN2 (Presenilin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
T3T (p.Thr3Thr) variant details
- p.Thr3Thr
- gnomAD 1-226881916-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.104
- CADD 3.24
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available