P36S (p.Pro36Ser) variant of HADHB (P55084)
P36S (p.Pro36Ser) in HADHB (P55084) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Mitochondrial trifunctional protein deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
P36S (p.Pro36Ser) variant details
- p.Pro36Ser
- rs781309147
- ClinGen CA1560086
- ClinVar RCV003089487
- ExAC rs781309147
- Uncertain significance
- Mitochondrial trifunctional protein deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.26
- CADD 10.90
- PolyPhen-2 0.00
- SIFT 0.14
- ClinVar: Uncertain significance (Mitochondrial trifunctional protein deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Cited in: Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency / Trifunctional Protein Deficiency. (PMID 36063482)