P28L (p.Pro28Leu) variant of NOTCH3 (Q9UM47)
P28L (p.Pro28Leu) in NOTCH3 (Q9UM47) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
P28L (p.Pro28Leu) variant details
- p.Pro28Leu
- ExAC rs750802043
- gnomAD rs750802043
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.33
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 0.66
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00012)
- Structural context available