P29T (p.Pro29Thr) variant of GABRA1 (P14867)
P29T (p.Pro29Thr) in GABRA1 (P14867) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Epilepsy, idiopathic generalized, susceptibility to, 13. 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.
P29T (p.Pro29Thr) variant details
- p.Pro29Thr
- rs143815396
- ClinGen CA362181462
- ClinVar RCV003802111
- 1000Genomes rs143815396
- Uncertain significance
- Inborn genetic diseases; Epilepsy, idiopathic generalized, susceptibility to, 13
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.17
- CADD 9.16
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Epilepsy, idiopathic generalized, susce)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 3.7e-06)
- Structural context available