L58S (p.Leu58Ser) variant of NOTCH2 (Q04721)
L58S (p.Leu58Ser) in NOTCH2 (Q04721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
L58S (p.Leu58Ser) variant details
- p.Leu58Ser
- ExAC rs782787639
- gnomAD rs782787639
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- REVEL 0.47
- CADD 25.40
- PolyPhen-2 0.94
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available