S27S (p.Ser27Ser) variant of SH2B3 (SH2B adapter protein 3)
S27S (p.Ser27Ser) in SH2B3 (SH2B adapter protein 3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
S27S (p.Ser27Ser) variant details
- p.Ser27Ser
- rs1269390404
- gnomAD 12-111418226-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.379
- CADD 9.06
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available