A5D (p.Ala5Asp) variant of SH2B3 (SH2B adapter protein 3)
A5D (p.Ala5Asp) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A5D (p.Ala5Asp) variant details
- p.Ala5Asp
- gnomAD 12-111418159-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.09
- ESM-1b 0.50
- AlphaMissense 0.23
- CADD 18.70
- PolyPhen-2 0.03
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available