T42N (p.Thr42Asn) variant of HADHB (P55084)
T42N (p.Thr42Asn) in HADHB (P55084) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
T42N (p.Thr42Asn) variant details
- p.Thr42Asn
- rs1477343493
- gnomAD 2-26263390-C-CA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.412
- CADD 25.30
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Literature evidence available