S16S (p.Ser16Ser) variant of SMARCA2 (P51531)
S16S (p.Ser16Ser) in SMARCA2 (P51531) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
S16S (p.Ser16Ser) variant details
- p.Ser16Ser
- rs760000638
- gnomAD 9-2029070-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.14
- CADD 8.36
- Most common in the East Asian population (allele frequency 0.00011)
- Structural context available
- Literature evidence available