R24L (p.Arg24Leu) variant of SH2B3 (SH2B adapter protein 3)
R24L (p.Arg24Leu) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
R24L (p.Arg24Leu) variant details
- p.Arg24Leu
- gnomAD 12-111418216-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.23
- MetaLR 0.16
- MetaSVM -0.98
- CADD 25.60
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available