L12V (p.Leu12Val) variant of NOTCH2 (Q04721)
L12V (p.Leu12Val) in NOTCH2 (Q04721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
L12V (p.Leu12Val) variant details
- p.Leu12Val
- gnomAD rs1553217927
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.31
- CADD 23.10
- PolyPhen-2 0.64
- SIFT 0.50
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available