A17S (p.Ala17Ser) variant of SH2B3 (SH2B adapter protein 3)
A17S (p.Ala17Ser) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
A17S (p.Ala17Ser) variant details
- p.Ala17Ser
- gnomAD 12-111418194-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0588
- REVEL 0.01
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 2.22
- PolyPhen-2 0.00
- SIFT 0.48
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available