S4S (p.Ser4Ser) variant of SETD1B (Q9UPS6)
S4S (p.Ser4Ser) in SETD1B (Q9UPS6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
S4S (p.Ser4Ser) variant details
- p.Ser4Ser
- rs1204497757
- gnomAD 12-121804749-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.399
- CADD 14.40
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available