T3K (p.Thr3Lys) variant of PSEN2 (Presenilin-2)
T3K (p.Thr3Lys) in PSEN2 (Presenilin-2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Alzheimer disease 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
T3K (p.Thr3Lys) variant details
- p.Thr3Lys
- TOPMed rs1261261196
- gnomAD rs1261261196
- Uncertain significance
- Alzheimer disease 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.60
- CADD 22.60
- PolyPhen-2 0.82
- SIFT 0.00
- ClinVar: Uncertain significance (Alzheimer disease 4)
- UniProt: Uncertain significance
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available