D40N (p.Asp40Asn) variant of PSEN1 (Presenilin-1)
D40N (p.Asp40Asn) in PSEN1 (Presenilin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
D40N (p.Asp40Asn) variant details
- p.Asp40Asn
- rs775543665
- ClinVar RCV004587967
- ExAC rs775543665
- TOPMed rs775543665
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.45
- CADD 17.00
- PolyPhen-2 0.00
- SIFT 0.34
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available