A37T (p.Ala37Thr) variant of HADHB (P55084)
A37T (p.Ala37Thr) in HADHB (P55084) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
A37T (p.Ala37Thr) variant details
- p.Ala37Thr
- ESP rs201078199
- ExAC rs201078199
- TOPMed rs201078199
- gnomAD rs201078199
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- REVEL 0.40
- CADD 34.00
- PolyPhen-2 0.00
- SIFT 0.19
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available