S13C (p.Ser13Cys) variant of SH2B3 (SH2B adapter protein 3)
S13C (p.Ser13Cys) 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.
S13C (p.Ser13Cys) variant details
- p.Ser13Cys
- gnomAD 12-111418183-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.04
- MetaLR 0.09
- MetaSVM -0.97
- CADD 14.70
- PolyPhen-2 0.00
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available