V287I (p.Val287Ile) variant of GABRG2 (P18507)
V287I (p.Val287Ile) in GABRG2 (P18507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizures, familial, 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes structural context.
V287I (p.Val287Ile) variant details
- p.Val287Ile
- rs1764624249
- ClinGen CA362182141
- NCI-TCGA Cosmic COSV6272
- cosmic curated COSV62723
- Uncertain significance
- EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizures, familial, 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- AlphaMissense 0.65
- MetaLR 0.77
- MetaSVM 0.63
- PolyPhen-2 0.93
- SIFT 0.00
- EVE 0.53
- ClinVar: Uncertain significance (EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizu)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available