G10R (p.Gly10Arg) variant of PHF6 (PHD finger protein 6)
G10R (p.Gly10Arg) in PHF6 (PHD finger protein 6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
G10R (p.Gly10Arg) variant details
- p.Gly10Arg
- rs758791658
- gnomAD X-134377638-G-GA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.622
- CADD 27.40
- Population evidence available
- Structural context available
- Literature evidence available