T42M (p.Thr42Met) variant of HADHB (P55084)
T42M (p.Thr42Met) in HADHB (P55084) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
T42M (p.Thr42Met) variant details
- p.Thr42Met
- ExAC rs751072011
- TOPMed rs751072011
- gnomAD rs751072011
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.25
- CADD 18.80
- PolyPhen-2 0.12
- SIFT 0.01
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available