P9L (p.Pro9Leu) variant of SETX (Helicase senataxin)
P9L (p.Pro9Leu) in SETX (Helicase senataxin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
P9L (p.Pro9Leu) variant details
- p.Pro9Leu
- rs1350139497
- ClinGen CA375352104
- ClinVar RCV002437389
- TOPMed rs1350139497
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- REVEL 0.49
- CADD 24.30
- PolyPhen-2 0.98
- SIFT 0.07
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- 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)