H43H (p.His43His) variant of PHF6 (PHD finger protein 6)
H43H (p.His43His) in PHF6 (PHD finger protein 6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
H43H (p.His43His) variant details
- p.His43His
- rs1352544862
- gnomAD X-134377746-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.323
- CADD 10.20
- Most common in the African/African-American population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available