R24Q (p.Arg24Gln) variant of SH2B3 (SH2B adapter protein 3)
R24Q (p.Arg24Gln) 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 0.27 / 1. The record also includes population frequency data and structural context.
R24Q (p.Arg24Gln) variant details
- p.Arg24Gln
- rs1263604332
- gnomAD rs1263604332
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.12
- MetaLR 0.08
- MetaSVM -1.12
- CADD 23.70
- PolyPhen-2 0.56
- SIFT 0.14
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available