P5T (p.Pro5Thr) variant of PSEN1 (Presenilin-1)
P5T (p.Pro5Thr) in PSEN1 (Presenilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
P5T (p.Pro5Thr) variant details
- p.Pro5Thr
- gnomAD 14-73148032-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- REVEL 0.58
- CADD 21.60
- PolyPhen-2 0.03
- SIFT 0.10
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available
- Literature evidence available