D70D (p.Asp70Asp) variant of SETD1B (Q9UPS6)
D70D (p.Asp70Asp) in SETD1B (Q9UPS6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
D70D (p.Asp70Asp) variant details
- p.Asp70Asp
- gnomAD 12-121805153-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.169
- CADD 12.50
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available
- Literature evidence available