H33Q (p.His33Gln) variant of SH2B3 (SH2B adapter protein 3)
H33Q (p.His33Gln) in SH2B3 (SH2B adapter protein 3) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
H33Q (p.His33Gln) variant details
- p.His33Gln
- TOPMed rs976292388
- gnomAD rs976292388
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- REVEL 0.72
- ESM-1b 1.00
- AlphaMissense 0.85
- MetaLR 0.60
- MetaSVM 0.11
- CADD 21.80
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available