H33N (p.His33Asn) variant of SH2B3 (SH2B adapter protein 3)
H33N (p.His33Asn) 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 0.78 / 1. The record also includes population frequency data and structural context.
H33N (p.His33Asn) variant details
- p.His33Asn
- ExAC rs761842617
- gnomAD rs761842617
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.781
- REVEL 0.84
- MetaLR 0.66
- MetaSVM 0.49
- CADD 23.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available