L256V (p.Leu256Val) variant of GABRB3 (P28472)
L256V (p.Leu256Val) in GABRB3 (P28472) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Epilepsy, childhood absence, susceptibility to, 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes structural context.
L256V (p.Leu256Val) variant details
- p.Leu256Val
- rs1555401942
- ClinGen CA391463215
- ClinVar RCV000503999
- Ensembl rs1555401942
- Likely pathogenic
- Epilepsy, childhood absence, susceptibility to, 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.842
- AlphaMissense 0.97
- MetaLR 0.85
- MetaSVM 0.83
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.69
- ClinVar: Likely pathogenic (Epilepsy, childhood absence, susceptibility to, 5)
- EBI: Likely pathogenic (in DEE43)
- UniProt: Likely pathogenic (in DEE43)
- Structural context available