S12S (p.Ser12Ser) variant of SH2B3 (SH2B adapter protein 3)
S12S (p.Ser12Ser) in SH2B3 (SH2B adapter protein 3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
S12S (p.Ser12Ser) variant details
- p.Ser12Ser
- gnomAD 12-111418181-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.333
- CADD 4.42
- Population evidence available
- Structural context available
- Literature evidence available