V13I (p.Val13Ile) variant of GABRG2 (P18507)
V13I (p.Val13Ile) in GABRG2 (P18507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizur. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
V13I (p.Val13Ile) variant details
- p.Val13Ile
- rs796052502
- ClinGen CA314699
- ClinVar RCV000187516
- ClinVar RCV001302963
- Conflicting interpretations
- not specified; EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2; Febrile seizur
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- CADD 17.10
- PolyPhen-2 0.01
- SIFT 0.29
- ClinVar: Conflicting classifications of pathogenicity (not specified; EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available