G3W (p.Gly3Trp) variant of SH2B3 (SH2B adapter protein 3)
G3W (p.Gly3Trp) in SH2B3 (SH2B adapter protein 3) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
G3W (p.Gly3Trp) variant details
- p.Gly3Trp
- NCI-TCGA Cosmic COSV1003
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.36
- MetaLR 0.37
- MetaSVM -0.25
- CADD 25.30
- PolyPhen-2 0.99
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available