S27R (p.Ser27Arg) variant of SH2B3 (SH2B adapter protein 3)
S27R (p.Ser27Arg) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
S27R (p.Ser27Arg) variant details
- p.Ser27Arg
- gnomAD 12-111418226-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.06
- MetaLR 0.03
- MetaSVM -1.03
- CADD 8.54
- PolyPhen-2 0.12
- SIFT 0.75
- Population evidence available
- Structural context available
- Literature evidence available