P2R (p.Pro2Arg) variant of KCNB1 (Q14721)
P2R (p.Pro2Arg) in KCNB1 (Q14721) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Developmental and epileptic encephalopathy, 26.
P2R (p.Pro2Arg) variant details
- p.Pro2Arg
- rs1279418021
- ClinGen CA408952649
- ClinVar RCV001516061
- TOPMed rs1279418021
- Benign
- Developmental and epileptic encephalopathy, 26
- Missense
- ClinVar: Benign (Developmental and epileptic encephalopathy, 26)
- EBI: Benign
- UniProt: Benign