D40G (p.Asp40Gly) variant of PSEN2 (Presenilin-2)
D40G (p.Asp40Gly) in PSEN2 (Presenilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
D40G (p.Asp40Gly) variant details
- p.Asp40Gly
- gnomAD 1-226882026-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.46
- CADD 19.70
- PolyPhen-2 0.00
- SIFT 0.23
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available