P301L (p.Pro301Leu) variant of GABRB3 (P28472)
P301L (p.Pro301Leu) in GABRB3 (P28472) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Developmental and epileptic encephalopathy, 43; Epilepsy, childhood absence, sus. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes structural context.
P301L (p.Pro301Leu) variant details
- p.Pro301Leu
- rs1889966534
- ClinGen CA391462154
- NCI-TCGA Cosmic COSV5466
- cosmic curated COSV54660
- Likely pathogenic
- Developmental and epileptic encephalopathy, 43; Epilepsy, childhood absence, sus
- Missense
- Variant Prioritization Score for Impact Estimate 0.684
- AlphaMissense 0.99
- MetaLR 0.77
- MetaSVM 0.69
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.26
- ClinVar: Likely pathogenic (Developmental and epileptic encephalopathy, 43; Epilepsy, childh)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available