C53M (p.Cys53Met) variant of SETD5 (Q9C0A6)
C53M (p.Cys53Met) in SETD5 (Q9C0A6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
C53M (p.Cys53Met) variant details
- p.Cys53Met
- gnomAD 3-9429877-G-GA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.719
- CADD 19.80
- Most common in the Non-Finnish European population (allele frequency 3.3e-06)
- Structural context available
- Literature evidence available