R24T (p.Arg24Thr) variant of GABRA1 (P14867)
R24T (p.Arg24Thr) in GABRA1 (P14867) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy, 19. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
R24T (p.Arg24Thr) variant details
- p.Arg24Thr
- rs2532198341
- ClinGen CA362181242
- ClinVar RCV003135302
- Uncertain significance
- Developmental and epileptic encephalopathy, 19
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.33
- CADD 19.30
- PolyPhen-2 0.01
- SIFT 0.40
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 19)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available