P36T (p.Pro36Thr) variant of HADHB (P55084)
P36T (p.Pro36Thr) 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 0.25 / 1. The record also includes population frequency data and structural context.
P36T (p.Pro36Thr) variant details
- p.Pro36Thr
- cosmic curated COSV10050
- ExAC rs781309147
- TOPMed rs781309147
- gnomAD rs781309147
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.25
- CADD 9.32
- PolyPhen-2 0.00
- SIFT 0.24
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available