M5T (p.Met5Thr) variant of PSEN2 (Presenilin-2)
M5T (p.Met5Thr) in PSEN2 (Presenilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
M5T (p.Met5Thr) variant details
- p.Met5Thr
- cosmic curated COSV10042
- gnomAD rs1661019355
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- REVEL 0.60
- CADD 22.90
- PolyPhen-2 0.07
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available