L4P (p.Leu4Pro) variant of NOTCH2 (Q04721)
L4P (p.Leu4Pro) 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.
L4P (p.Leu4Pro) variant details
- p.Leu4Pro
- gnomAD rs1553217948
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.39
- CADD 24.80
- PolyPhen-2 0.90
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available