G6R (p.Gly6Arg) variant of GABRB3 (P28472)
G6R (p.Gly6Arg) in GABRB3 (P28472) 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 0.37 / 1. The record also includes population frequency data and structural context.
G6R (p.Gly6Arg) variant details
- p.Gly6Arg
- rs868185545
- ClinGen CA391465680
- ClinVar RCV003321243
- gnomAD rs868185545
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.26
- CADD 17.60
- PolyPhen-2 0.00
- SIFT 0.42
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available