W26R (p.Trp26Arg) variant of SH2B3 (SH2B adapter protein 3)
W26R (p.Trp26Arg) in SH2B3 (SH2B adapter protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
W26R (p.Trp26Arg) variant details
- p.Trp26Arg
- gnomAD 12-111418221-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.679
- REVEL 0.78
- MetaLR 0.71
- MetaSVM 0.42
- CADD 26.90
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available