T25S (p.Thr25Ser) variant of PSEN1 (Presenilin-1)
T25S (p.Thr25Ser) in PSEN1 (Presenilin-1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
T25S (p.Thr25Ser) variant details
- p.Thr25Ser
- gnomAD rs201945418
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.42
- CADD 13.20
- PolyPhen-2 0.00
- SIFT 0.92
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available