T24A (p.Thr24Ala) variant of GABRG2 (P18507)
T24A (p.Thr24Ala) in GABRG2 (P18507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
T24A (p.Thr24Ala) variant details
- p.Thr24Ala
- rs796052516
- ClinGen CA314762
- cosmic curated COSV62717
- ClinVar RCV000187541
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- CADD 20.30
- PolyPhen-2 0.00
- SIFT 0.78
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available