R62P (p.Arg62Pro) variant of PSEN2 (Presenilin-2)
R62P (p.Arg62Pro) in PSEN2 (Presenilin-2) is a missense change. Clinical records from EBI and UniProt describe it as benign in the context of in AD4. The record also includes structural context.
R62P (p.Arg62Pro) variant details
- p.Arg62Pro
- 1000Genomes rs58973334
- ESP rs58973334
- ExAC rs58973334
- TOPMed rs58973334
- Benign
- in AD4
- Missense
- EBI: Benign (in AD4)
- UniProt: Benign (in AD4)
- Structural context available