P103H (p.Pro103His) variant of GABRB3 (P28472)
P103H (p.Pro103His) in GABRB3 (P28472) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, childhood absence. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes structural context.
P103H (p.Pro103His) variant details
- p.Pro103His
- rs1892480524
- ClinGen CA391461226
- NCI-TCGA Cosmic COSV5467
- cosmic curated COSV54674
- Uncertain significance
- Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, childhood absence
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- AlphaMissense 0.21
- MetaLR 0.45
- MetaSVM -0.11
- PolyPhen-2 0.92
- SIFT 0.01
- EVE 0.13
- ClinVar: Uncertain significance (Epilepsy, childhood absence, susceptibility to, 5; Epilepsy, chi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available