A21A (p.Ala21Ala) variant of SH2B3 (SH2B adapter protein 3)
A21A (p.Ala21Ala) in SH2B3 (SH2B adapter protein 3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
A21A (p.Ala21Ala) variant details
- p.Ala21Ala
- rs772256437
- gnomAD 12-111418208-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.103
- CADD 3.21
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available