T42S (p.Thr42Ser) variant of HADHB (P55084)
T42S (p.Thr42Ser) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
T42S (p.Thr42Ser) variant details
- p.Thr42Ser
- TOPMed rs1191272205
- gnomAD rs1191272205
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.26
- CADD 0.93
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available