R24G (p.Arg24Gly) variant of SH2B3 (SH2B adapter protein 3)
R24G (p.Arg24Gly) in SH2B3 (SH2B adapter protein 3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
R24G (p.Arg24Gly) variant details
- p.Arg24Gly
- rs775477645
- gnomAD 12-111418212-CCG-
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.488
- CADD 22.30
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available