T42T (p.Thr42Thr) variant of HADHB (P55084)
T42T (p.Thr42Thr) in HADHB (P55084) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
T42T (p.Thr42Thr) variant details
- p.Thr42Thr
- gnomAD 2-26263396-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0833
- CADD 0.37
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Literature evidence available