H33H (p.His33His) variant of SH2B3 (SH2B adapter protein 3)
H33H (p.His33His) in SH2B3 (SH2B adapter protein 3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
H33H (p.His33His) variant details
- p.His33His
- rs976292388
- gnomAD 12-111418244-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.555
- CADD 5.20
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available