p.Ala20 Pro23del variant of SH2B3 (SH2B adapter protein 3)
p.Ala20 Pro23del in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
p.Ala20 Pro23del variant details
- gnomAD 12-111418197-TCCC
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.387
- CADD 9.90
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available
- Literature evidence available