S27V (p.Ser27Val) variant of SH2B3 (SH2B adapter protein 3)
S27V (p.Ser27Val) in SH2B3 (SH2B adapter protein 3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
S27V (p.Ser27Val) variant details
- p.Ser27Val
- gnomAD 12-111418223-GAGC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.767
- CADD 29.40
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available