P5S (p.Pro5Ser) variant of GABRA1 (P14867)
P5S (p.Pro5Ser) 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; Idiopathic generalized. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes structural context.
P5S (p.Pro5Ser) variant details
- p.Pro5Ser
- rs866369940
- ClinGen CA131082093
- ClinVar RCV002000705
- Ensembl rs866369940
- Uncertain significance
- Epilepsy, idiopathic generalized, susceptibility to, 13; Idiopathic generalized
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- AlphaMissense 0.08
- MetaLR 0.20
- MetaSVM -1.03
- PolyPhen-2 0.00
- SIFT 0.29
- MutPred 0.40
- ClinVar: Uncertain significance (Epilepsy, idiopathic generalized, susceptibility to, 13; Idiopat)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available