Q31* (p.Gln31Ter) variant of HADHB (P55084)
Q31* (p.Gln31Ter) in HADHB (P55084) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
Q31* (p.Gln31Ter) variant details
- p.Gln31Ter
- ExAC rs764825824
- gnomAD rs764825824
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.689
- CADD 37.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available