S38S (p.Ser38Ser) variant of SETD5 (Q9C0A6)
S38S (p.Ser38Ser) in SETD5 (Q9C0A6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
S38S (p.Ser38Ser) variant details
- p.Ser38Ser
- rs2040259407
- gnomAD 3-9433887-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.65
- CADD 11.70
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available