S9S (p.Ser9Ser) variant of SH2B3 (SH2B adapter protein 3)
S9S (p.Ser9Ser) in SH2B3 (SH2B adapter protein 3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
S9S (p.Ser9Ser) variant details
- p.Ser9Ser
- gnomAD 12-111418172-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.235
- CADD 6.03
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available