H51H (p.His51His) variant of SETD5 (Q9C0A6)
H51H (p.His51His) in SETD5 (Q9C0A6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
H51H (p.His51His) variant details
- p.His51His
- rs2040263636
- gnomAD 3-9433926-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.419
- CADD 10.40
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available