L31F (p.Leu31Phe) variant of GABRA1 (P14867)
L31F (p.Leu31Phe) in GABRA1 (P14867) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Idiopathic generalized epilepsy; Epilepsy, childhood absence 4; Epilepsy, idiopa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
L31F (p.Leu31Phe) variant details
- p.Leu31Phe
- rs747927213
- ClinGen CA3544341
- ClinVar RCV001155795
- ClinVar RCV001434899
- Conflicting interpretations
- Idiopathic generalized epilepsy; Epilepsy, childhood absence 4; Epilepsy, idiopa
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.24
- CADD 8.35
- PolyPhen-2 0.17
- SIFT 0.06
- ClinVar: Conflicting classifications of pathogenicity (Idiopathic generalized epilepsy; Epilepsy, childhood absence 4;)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00058)
- Structural context available