D24D (p.Asp24Asp) variant of SETD5 (Q9C0A6)
D24D (p.Asp24Asp) in SETD5 (Q9C0A6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
D24D (p.Asp24Asp) variant details
- p.Asp24Asp
- gnomAD 3-9433845-C-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.692
- CADD 16.70
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available