T27K (p.Thr27Lys) variant of PSEN2 (Presenilin-2)
T27K (p.Thr27Lys) in PSEN2 (Presenilin-2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
T27K (p.Thr27Lys) variant details
- p.Thr27Lys
- ESP rs149354305
- ExAC rs149354305
- TOPMed rs149354305
- gnomAD rs149354305
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.37
- CADD 3.26
- PolyPhen-2 0.12
- SIFT 0.74
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available