P54L (p.Pro54Leu) variant of NOTCH2 (Q04721)
P54L (p.Pro54Leu) in NOTCH2 (Q04721) 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 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
P54L (p.Pro54Leu) variant details
- p.Pro54Leu
- rs781815362
- ClinGen CA1040918
- ClinVar RCV002689582
- ExAC rs781815362
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.13
- CADD 22.70
- PolyPhen-2 0.78
- SIFT 0.38
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00018)
- 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)