E10G (p.Glu10Gly) variant of PSEN2 (Presenilin-2)
E10G (p.Glu10Gly) 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 and structural context.
E10G (p.Glu10Gly) variant details
- p.Glu10Gly
- TOPMed rs1661020551
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- REVEL 0.63
- CADD 28.50
- PolyPhen-2 0.51
- SIFT 0.06
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available