Q7H (p.Gln7His) variant of SH2B3 (SH2B adapter protein 3)
Q7H (p.Gln7His) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
Q7H (p.Gln7His) variant details
- p.Gln7His
- gnomAD 12-111418166-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.06
- MetaLR 0.08
- MetaSVM -1.02
- CADD 12.80
- PolyPhen-2 0.03
- SIFT 0.17
- Population evidence available
- Structural context available
- Literature evidence available