A45T (p.Ala45Thr) variant of PSEN2 (Presenilin-2)
A45T (p.Ala45Thr) in PSEN2 (Presenilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
A45T (p.Ala45Thr) variant details
- p.Ala45Thr
- gnomAD 1-226882040-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.28
- CADD 9.36
- PolyPhen-2 0.00
- SIFT 0.53
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available