S23S (p.Ser23Ser) variant of SETD5 (Q9C0A6)
S23S (p.Ser23Ser) in SETD5 (Q9C0A6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
S23S (p.Ser23Ser) variant details
- p.Ser23Ser
- rs1303903255
- gnomAD 3-9429007-A-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.367
- CADD 17.30
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available