D40H (p.Asp40His) variant of PSEN1 (Presenilin-1)
D40H (p.Asp40His) in PSEN1 (Presenilin-1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
D40H (p.Asp40His) variant details
- p.Asp40His
- ExAC rs775543665
- TOPMed rs775543665
- gnomAD rs775543665
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.51
- CADD 18.50
- PolyPhen-2 0.04
- SIFT 0.07
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available