H43H (p.His43His) variant of SETD5 (Q9C0A6)
H43H (p.His43His) in SETD5 (Q9C0A6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
H43H (p.His43His) variant details
- p.His43His
- gnomAD 3-9429924-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.464
- CADD 19.20
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available