G67W (p.Gly67Trp) variant of PSEN2 (Presenilin-2)
G67W (p.Gly67Trp) in PSEN2 (Presenilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
G67W (p.Gly67Trp) variant details
- p.Gly67Trp
- gnomAD 1-226883762-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- REVEL 0.59
- CADD 24.50
- PolyPhen-2 0.57
- SIFT 0.00
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- Literature evidence available