S17S (p.Ser17Ser) variant of SMARCA4 (P51532)
S17S (p.Ser17Ser) in SMARCA4 (P51532) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
S17S (p.Ser17Ser) variant details
- p.Ser17Ser
- rs1438233071
- gnomAD 19-10984202-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.114
- CADD 4.67
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Literature evidence available