I6N (p.Ile6Asn) variant of GABRG2 (P18507)
I6N (p.Ile6Asn) in GABRG2 (P18507) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
I6N (p.Ile6Asn) variant details
- p.Ile6Asn
- gnomAD 5-162068014-T-TA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.427
- CADD 25.20
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available