T24M (p.Thr24Met) variant of GABRG2 (P18507)
T24M (p.Thr24Met) in GABRG2 (P18507) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
T24M (p.Thr24Met) variant details
- p.Thr24Met
- NCI-TCGA Cosmic COSV1007
- cosmic curated COSV10072
- Uncertain significance
- Inborn genetic diseases; EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febr
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- CADD 21.50
- PolyPhen-2 0.00
- SIFT 0.26
- ClinVar: Uncertain significance (Inborn genetic diseases; EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBI)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available