M136T (p.Met136Thr) variant of HADHB (P55084)
M136T (p.Met136Thr) in HADHB (P55084) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Mitochondrial trifunctional protein deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
M136T (p.Met136Thr) variant details
- p.Met136Thr
- rs750956714
- ClinGen CA1560209
- ClinVar RCV001249194
- ExAC rs750956714
- Likely pathogenic
- Mitochondrial trifunctional protein deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- REVEL 0.93
- CADD 26.30
- PolyPhen-2 0.97
- SIFT 0.01
- ClinVar: Likely pathogenic (Mitochondrial trifunctional protein deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency / Trifunctional Protein Deficiency. (PMID 36063482)