P130S (p.Pro130Ser) variant of HADHB (P55084)
P130S (p.Pro130Ser) 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 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
P130S (p.Pro130Ser) variant details
- p.Pro130Ser
- rs759277349
- ClinGen CA1560204
- ClinVar RCV003074122
- ExAC rs759277349
- Uncertain significance
- Mitochondrial trifunctional protein deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.873
- REVEL 0.94
- CADD 25.70
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Mitochondrial trifunctional protein deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Cited in: Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency / Trifunctional Protein Deficiency. (PMID 36063482)