Q71K (p.Gln71Lys) variant of PHF6 (PHD finger protein 6)
Q71K (p.Gln71Lys) in PHF6 (PHD finger protein 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
Q71K (p.Gln71Lys) variant details
- p.Gln71Lys
- gnomAD X-134378077-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.12
- CADD 15.60
- PolyPhen-2 0.01
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available