T44A (p.Thr44Ala) variant of PSEN2 (Presenilin-2)
T44A (p.Thr44Ala) in PSEN2 (Presenilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
T44A (p.Thr44Ala) variant details
- p.Thr44Ala
- Ensembl rs200535276
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.27
- CADD 5.67
- PolyPhen-2 0.00
- SIFT 0.90
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available