M16T (p.Met16Thr) variant of PSEN1 (Presenilin-1)
M16T (p.Met16Thr) in PSEN1 (Presenilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
M16T (p.Met16Thr) variant details
- p.Met16Thr
- ESP rs199759305
- ExAC rs199759305
- TOPMed rs199759305
- gnomAD rs199759305
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- REVEL 0.51
- CADD 20.70
- PolyPhen-2 0.00
- SIFT 0.59
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available