P72Q (p.Pro72Gln) variant of SCN4A (Nav1.4)
P72Q (p.Pro72Gln) in SCN4A (Nav1.4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of the patient carries a disease-causing CCTG repeat expansion in CNBP. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
P72Q (p.Pro72Gln) variant details
- p.Pro72Gln
- TOPMed rs1303471186
- gnomAD rs1303471186
- Uncertain significance
- the patient carries a disease-causing CCTG repeat expansion in CNBP
- Missense
- Variant Prioritization Score for Impact Estimate 0.826
- REVEL 0.86
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance (the patient carries a disease-causing CCTG repeat expansion in C)
- UniProt: Uncertain significance (the patient carries a disease-causing CCTG repeat expansion in C)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available