S54S (p.Ser54Ser) variant of SMARCA2 (P51531)
S54S (p.Ser54Ser) in SMARCA2 (P51531) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
S54S (p.Ser54Ser) variant details
- p.Ser54Ser
- rs1252230463
- gnomAD 9-2029184-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.09
- CADD 1.32
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available