N2N (p.Asn2Asn) variant of SH2B3 (SH2B adapter protein 3)
N2N (p.Asn2Asn) in SH2B3 (SH2B adapter protein 3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
N2N (p.Asn2Asn) variant details
- p.Asn2Asn
- rs759758469
- gnomAD 12-111418151-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0834
- CADD 0.39
- Most common in the African/African-American population (allele frequency 3.6e-05)
- Structural context available
- Literature evidence available