P355L (p.Pro355Leu) variant of HADHB (P55084)
P355L (p.Pro355Leu) in HADHB (P55084) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Mitochondrial trifunctional protein deficiency; not pro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
P355L (p.Pro355Leu) variant details
- p.Pro355Leu
- rs2147831289
- ClinGen CA346095504
- ClinVar RCV001768741
- ClinVar RCV005094956
- Uncertain significance
- Inborn genetic diseases; Mitochondrial trifunctional protein deficiency; not pro
- Missense
- Variant Prioritization Score for Impact Estimate 0.899
- REVEL 0.96
- CADD 29.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Mitochondrial trifunctional protein def)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)