A21S (p.Ala21Ser) variant of SH2B3 (SH2B adapter protein 3)
A21S (p.Ala21Ser) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
A21S (p.Ala21Ser) variant details
- p.Ala21Ser
- gnomAD 12-111418206-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.158
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 7.56
- PolyPhen-2 0.76
- SIFT 0.35
- Population evidence available
- Structural context available
- Literature evidence available