A37P (p.Ala37Pro) variant of HADHB (P55084)
A37P (p.Ala37Pro) in HADHB (P55084) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Mitochondrial trifunctional protein deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
A37P (p.Ala37Pro) variant details
- p.Ala37Pro
- rs201078199
- ClinGen CA1560087
- ClinVar RCV003072125
- ClinVar RCV003481385
- Uncertain significance
- not provided; Mitochondrial trifunctional protein deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.628
- REVEL 0.49
- CADD 35.00
- PolyPhen-2 0.01
- SIFT 0.13
- ClinVar: Uncertain significance (not provided; Mitochondrial trifunctional protein deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Cited in: Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency / Trifunctional Protein Deficiency. (PMID 36063482)