L32P (p.Leu32Pro) variant of HADHB (P55084)
L32P (p.Leu32Pro) in HADHB (P55084) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
L32P (p.Leu32Pro) variant details
- p.Leu32Pro
- ExAC rs779498186
- TOPMed rs779498186
- gnomAD rs779498186
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.51
- CADD 22.90
- PolyPhen-2 0.03
- SIFT 0.19
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available