L6P (p.Leu6Pro) variant of SH2B3 (SH2B adapter protein 3)
L6P (p.Leu6Pro) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
L6P (p.Leu6Pro) variant details
- p.Leu6Pro
- gnomAD 12-111418162-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.07
- MetaLR 0.05
- MetaSVM -1.08
- CADD 22.00
- PolyPhen-2 0.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available