T27A (p.Thr27Ala) variant of PSEN2 (Presenilin-2)
T27A (p.Thr27Ala) in PSEN2 (Presenilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
T27A (p.Thr27Ala) variant details
- p.Thr27Ala
- ESP rs147326133
- ExAC rs147326133
- TOPMed rs147326133
- gnomAD rs147326133
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.27
- CADD 0.75
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available