S22S (p.Ser22Ser) variant of SMARCA2 (P51531)
S22S (p.Ser22Ser) in SMARCA2 (P51531) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
S22S (p.Ser22Ser) variant details
- p.Ser22Ser
- rs780915633
- gnomAD 9-2029088-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.127
- CADD 5.74
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available