I6M (p.Ile6Met) variant of GABRG2 (P18507)
I6M (p.Ile6Met) in GABRG2 (P18507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
I6M (p.Ile6Met) variant details
- p.Ile6Met
- cosmic curated COSV10466
- gnomAD rs1282599369
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- CADD 19.40
- PolyPhen-2 0.01
- SIFT 0.21
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available