p.Ser13 Ser16del variant of SH2B3 (SH2B adapter protein 3)
p.Ser13 Ser16del in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
p.Ser13 Ser16del variant details
- rs1254306591
- gnomAD 12-111418173-TCGC
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.176
- CADD 13.40
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available