V18I (p.Val18Ile) variant of GABRG2 (P18507)
V18I (p.Val18Ile) in GABRG2 (P18507) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
V18I (p.Val18Ile) variant details
- p.Val18Ile
- 1000Genomes rs141106898
- ExAC rs141106898
- TOPMed rs141106898
- gnomAD rs141106898
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- CADD 18.20
- PolyPhen-2 0.00
- SIFT 0.28
- EBI: Benign
- UniProt: Benign
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available