M5I (p.Met5Ile) variant of PSEN2 (Presenilin-2)
M5I (p.Met5Ile) in PSEN2 (Presenilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
M5I (p.Met5Ile) variant details
- p.Met5Ile
- gnomAD 1-226881922-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.643
- REVEL 0.58
- CADD 23.40
- PolyPhen-2 0.05
- SIFT 0.05
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available