D40G (p.Asp40Gly) variant of PSEN1 (Presenilin-1)
D40G (p.Asp40Gly) in PSEN1 (Presenilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
D40G (p.Asp40Gly) variant details
- p.Asp40Gly
- gnomAD 14-73170828-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- REVEL 0.48
- CADD 18.80
- PolyPhen-2 0.00
- SIFT 0.22
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available