P60R (p.Pro60Arg) variant of GABRB3 (P28472)
P60R (p.Pro60Arg) in GABRB3 (P28472) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence. The record also includes structural context.
P60R (p.Pro60Arg) variant details
- p.Pro60Arg
- NCI-TCGA Cosmic COSV5466
- Uncertain significance
- Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence
- Missense
- ClinVar: Uncertain significance (Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, chi)
- UniProt: Uncertain significance
- Structural context available