T78A (p.Thr78Ala) variant of PHF6 (PHD finger protein 6)
T78A (p.Thr78Ala) in PHF6 (PHD finger protein 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
T78A (p.Thr78Ala) variant details
- p.Thr78Ala
- gnomAD X-134378098-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.24
- CADD 20.90
- PolyPhen-2 0.09
- SIFT 0.48
- Population evidence available
- Structural context available
- Literature evidence available