T78K (p.Thr78Lys) variant of PHF6 (PHD finger protein 6)
T78K (p.Thr78Lys) in PHF6 (PHD finger protein 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
T78K (p.Thr78Lys) variant details
- p.Thr78Lys
- gnomAD X-134378099-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.30
- CADD 14.10
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 3.9e-05)
- Structural context available
- Literature evidence available