A37A (p.Ala37Ala) variant of SH2B3 (SH2B adapter protein 3)
A37A (p.Ala37Ala) in SH2B3 (SH2B adapter protein 3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
A37A (p.Ala37Ala) variant details
- p.Ala37Ala
- rs756441267
- gnomAD 12-111418256-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.123
- CADD 5.96
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available
- Literature evidence available