H42Y (p.His42Tyr) variant of PHF6 (PHD finger protein 6)
H42Y (p.His42Tyr) in PHF6 (PHD finger protein 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
H42Y (p.His42Tyr) variant details
- p.His42Tyr
- gnomAD X-134377741-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- REVEL 0.95
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available