Y187F (p.Tyr187Phe) variant of GABRA1 (P14867)
Y187F (p.Tyr187Phe) in GABRA1 (P14867) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Epilepsy, idiopathic generalized, susceptibility to, 13; Epilepsy, childhood abs. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
Y187F (p.Tyr187Phe) variant details
- p.Tyr187Phe
- rs1388847957
- ClinGen CA362179389
- ClinVar RCV002010299
- gnomAD rs1388847957
- Uncertain significance
- Epilepsy, idiopathic generalized, susceptibility to, 13; Epilepsy, childhood abs
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- REVEL 0.73
- AlphaMissense 0.38
- MetaLR 0.56
- MetaSVM 0.12
- CADD 27.70
- PolyPhen-2 0.98
- ClinVar: Uncertain significance (Epilepsy, idiopathic generalized, susceptibility to, 13; Epileps)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available