S12P (p.Ser12Pro) variant of SH2B3 (SH2B adapter protein 3)
S12P (p.Ser12Pro) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
S12P (p.Ser12Pro) variant details
- p.Ser12Pro
- gnomAD 12-111418179-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0984
- REVEL 0.01
- MetaLR 0.06
- MetaSVM -1.03
- CADD 13.70
- PolyPhen-2 0.00
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available