N43K (p.Asn43Lys) variant of PSEN2 (Presenilin-2)
N43K (p.Asn43Lys) in PSEN2 (Presenilin-2) is a missense change. Clinical records from EBI and UniProt describe it as benign. The record also includes structural context.
N43K (p.Asn43Lys) variant details
- p.Asn43Lys
- 1000Genomes rs6759
- ESP rs6759
- ExAC rs6759
- TOPMed rs6759
- Benign
- Missense
- EBI: Benign
- UniProt: Benign
- Structural context available