M21I (p.Met21Ile) variant of PSEN2 (Presenilin-2)
M21I (p.Met21Ile) in PSEN2 (Presenilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
M21I (p.Met21Ile) variant details
- p.Met21Ile
- ExAC rs752960820
- gnomAD rs752960820
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- REVEL 0.47
- CADD 18.00
- PolyPhen-2 0.01
- SIFT 0.08
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available