S12S (p.Ser12Ser) variant of SH2D1A (SH2 domain-containing protein 1A)
S12S (p.Ser12Ser) in SH2D1A (SH2 domain-containing protein 1A) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
S12S (p.Ser12Ser) variant details
- p.Ser12Ser
- rs1259577571
- gnomAD X-124346678-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.405
- CADD 13.20
- Most common in the Non-Finnish European population (allele frequency 5.6e-05)
- Structural context available
- Literature evidence available