Q7K (p.Gln7Lys) variant of SH2B3 (SH2B adapter protein 3)
Q7K (p.Gln7Lys) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
Q7K (p.Gln7Lys) variant details
- p.Gln7Lys
- gnomAD 12-111418164-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.18
- CADD 16.00
- PolyPhen-2 0.35
- SIFT 0.24
- Population evidence available
- Structural context available
- Literature evidence available