H42H (p.His42His) variant of PHF6 (PHD finger protein 6)
H42H (p.His42His) in PHF6 (PHD finger protein 6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
H42H (p.His42His) variant details
- p.His42His
- rs776870994
- gnomAD X-134377743-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.337
- CADD 8.52
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available