S28S (p.Ser28Ser) variant of SH2D1A (SH2 domain-containing protein 1A)
S28S (p.Ser28Ser) in SH2D1A (SH2 domain-containing protein 1A) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
S28S (p.Ser28Ser) variant details
- p.Ser28Ser
- rs748536692
- gnomAD X-124346726-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.362
- CADD 13.30
- Most common in the Latino/Admixed American population (allele frequency 9.3e-05)
- Structural context available
- Literature evidence available