G18K (p.Gly18Lys) variant of PHF6 (PHD finger protein 6)
G18K (p.Gly18Lys) in PHF6 (PHD finger protein 6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
G18K (p.Gly18Lys) variant details
- p.Gly18Lys
- gnomAD X-134377668-T-TAA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.446
- CADD 29.00
- Population evidence available
- Structural context available
- Literature evidence available