R24W (p.Arg24Trp) variant of SH2B3 (SH2B adapter protein 3)
R24W (p.Arg24Trp) in SH2B3 (SH2B adapter protein 3) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
R24W (p.Arg24Trp) variant details
- p.Arg24Trp
- rs984848263
- NCI-TCGA Cosmic COSV5798
- TOPMed rs984848263
- gnomAD rs984848263
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.28
- MetaLR 0.18
- MetaSVM -0.84
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available